Materiały źródłowe

• #1 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. […] MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. […] MEN1 may be inherited in an autosomal dominant manner, with 90% of individuals diagnosed with this disease having an affected parent, and only 10% having a de novo MEN1 germline mutation. […] The MEN1 gene, located on chromosome 11 (11q13), was first identified in 1997, and spans ~9,000 base pairs of genomic DNA containing 10 exons. […] More than 1,200 germline mutations in the MEN1 gene have been identified, which are scattered over the entire coding region of the gene without any significant hot spots or genotype-phenotype correlations. […] Approximately 5–25% of patients with MEN1 may not have mutations in the MEN1 coding region. […] MEN1 acts as a tumor suppressor gene.

• #2 Multiple endocrine neoplasia type 1 | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-38

  Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. […] The responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid nuclear protein, menin, with no sequence homology to other known human proteins. MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor gene. […] The mutated MEN1 allele is a germline mutation present in all cells at birth. The second mutation is a somatic mutation that occurs in the predisposed endocrine cell and leads to loss of the remaining wild type allele; it gives cells the survival advantage needed for tumour development.

• #3 Multiple Endocrine Neoplasia Type 1 (MEN1): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/923269-overview

  Multiple endocrine neoplasia type 1 (MEN1) is an endocrine tumor syndrome caused by inactivating mutations of the MEN1 tumor suppressor gene at the 11q13 locus. […] Although usually inherited as an autosomal dominant disorder, MEN1 can also occur sporadically (without a family history) as a result of new mutations. […] The putative gene for MEN1 has been localized to band 11q13 and codes for the menin protein. Menin is involved with regulation of transcription and genome stability. Loss of heterozygosity for this region is associated with MEN1, suggesting that the gene has tumor suppression function. Patients inherit one mutated copy of the gene and require a somatic mutation of the second copy for tumor development. MEN1 is an autosomal dominant disorder, but sporadic mutations also occur. A study from Italy that was based on a large MEN1 database identified 99 mutations, ranging from nonsense to missense and different slicing site mutations.

• #4 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. […] MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. […] MEN1 may be inherited in an autosomal dominant manner, with 90% of individuals diagnosed with this disease having an affected parent, and only 10% having a de novo MEN1 germline mutation. […] The MEN1 gene, located on chromosome 11 (11q13), was first identified in 1997, and spans ~9,000 base pairs of genomic DNA containing 10 exons. […] More than 1,200 germline mutations in the MEN1 gene have been identified, which are scattered over the entire coding region of the gene without any significant hot spots or genotype-phenotype correlations. […] Approximately 5–25% of patients with MEN1 may not have mutations in the MEN1 coding region. […] MEN1 acts as a tumor suppressor gene.

• #5 Multiple endocrine neoplasia type 1 | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-38

  Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. […] The responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid nuclear protein, menin, with no sequence homology to other known human proteins. MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor gene. […] The mutated MEN1 allele is a germline mutation present in all cells at birth. The second mutation is a somatic mutation that occurs in the predisposed endocrine cell and leads to loss of the remaining wild type allele; it gives cells the survival advantage needed for tumour development.

• #6 Multiple endocrine neoplasia type 1 | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-38

  Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. […] The responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid nuclear protein, menin, with no sequence homology to other known human proteins. MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor gene. […] The mutated MEN1 allele is a germline mutation present in all cells at birth. The second mutation is a somatic mutation that occurs in the predisposed endocrine cell and leads to loss of the remaining wild type allele; it gives cells the survival advantage needed for tumour development.

• #7 Multiple endocrine neoplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/

  Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although the exact function of menin is unknown, it is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes. When mutations inactivate both copies of the MEN1 gene, menin is no longer available to control cell growth and division. The loss of functional menin allows cells to divide too frequently, leading to the formation of tumors characteristic of multiple endocrine neoplasia type 1. It is unclear why these tumors preferentially affect endocrine tissues. […] Mutations in the RET gene cause multiple endocrine neoplasia type 2. This gene provides instructions for producing a protein that is involved in signaling within cells. The RET protein triggers chemical reactions that instruct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene overactivate the protein’s signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in endocrine glands and other tissues.

• #8 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. […] MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. […] MEN1 may be inherited in an autosomal dominant manner, with 90% of individuals diagnosed with this disease having an affected parent, and only 10% having a de novo MEN1 germline mutation. […] The MEN1 gene, located on chromosome 11 (11q13), was first identified in 1997, and spans ~9,000 base pairs of genomic DNA containing 10 exons. […] More than 1,200 germline mutations in the MEN1 gene have been identified, which are scattered over the entire coding region of the gene without any significant hot spots or genotype-phenotype correlations. […] Approximately 5–25% of patients with MEN1 may not have mutations in the MEN1 coding region. […] MEN1 acts as a tumor suppressor gene.

• #9 Multiple Endocrine Neoplasia, Type 1 (MEN 1) – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-1-men-1

  Multiple endocrine neoplasia, type 1 (MEN 1) is an autosomal dominant syndrome characterized by hyperplasia or adenomas of the parathyroid glands, pancreatic islet cell tumors (also known as pancreatic neuroendocrine tumors), and/or pituitary gland tumors. […] MEN 1 is caused by an inactivating mutation of the MEN1 gene that encodes the nuclear protein menin; 500 mutations of this gene have been identified. […] The exact function of menin is unknown, but it appears to have tumor-suppressing effects. […] Some mutations are thought to be associated with a higher rate of pancreatic islet cell tumor development, a higher rate of distant metastases, and more aggressive disease.

• #10 Multiple Endocrine Neoplasia (MEN): Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/23088-multiple-endocrine-neoplasia-men

  Multiple endocrine neoplasia (MEN) is a rare condition caused by a genetic mutation that affects multiple glands in your endocrine system. […] Multiple endocrine neoplasia (MEN) is a rare genetic condition characterized by multiple tumors and/or cancer that affect specific endocrine system glands and tissues. […] MEN type 1 is caused by mutations of the MEN1 gene. The MEN1 gene is a tumor suppressor gene, meaning it helps prevent tumors from forming by controlling cell division and instructing cells when to die (a normal process). When tumor suppressor genes, such as MEN1 malfunction, certain cells may continue to grow and reproduce, causing tumors to form. […] MEN type 2 is caused by mutations of the RET gene, which is a gene that plays a role in the development of cancer. When working as it should, the RET gene helps control cell division and regulation of cell death. Mutations of the RET gene lead to uncontrolled growth of cells, causing tumors to form in certain organs and glands.

• #11 Multiple endocrine neoplasia type 1 – Wikipedia

  https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1

  Multiple endocrine neoplasia type 1 is inherited in an autosomal dominant manner. […] People with multiple endocrine neoplasia type 1 are born with one mutated copy of the MEN1 gene in each cell. Then, during their lifetime, the other copy of the gene is mutated in a small number of cells. These genetic changes result in no functional copies of the MEN1 gene in selected cells, allowing the cells to divide with little control and form tumors. This is known as Knudson’s two-hit hypothesis and is a common feature seen with inherited defects in tumor suppressor genes. […] The exact function of MEN1 and the protein, menin, produced by this gene is not known, but following the inheritance rules of the „two-hit hypothesis” indicates that it acts as a tumor suppressor.

• #12 Multiple endocrine neoplasia type 1 | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-38

  Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. […] The responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid nuclear protein, menin, with no sequence homology to other known human proteins. MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor gene. […] The mutated MEN1 allele is a germline mutation present in all cells at birth. The second mutation is a somatic mutation that occurs in the predisposed endocrine cell and leads to loss of the remaining wild type allele; it gives cells the survival advantage needed for tumour development.

• #13

  https://omim.org/entry/131100

  The observation of LOH involving 11q13 in MEN1 tumors and the inactivating germline mutations found in patients suggest that the MEN1 gene acts as a tumor suppressor, in keeping with the '2-hit’ model of hereditary cancer. The second hit in MEN1 tumors typically involves large chromosomal deletions that include 11q13.

• #14 Multiple endocrine neoplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/

  Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although the exact function of menin is unknown, it is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes. When mutations inactivate both copies of the MEN1 gene, menin is no longer available to control cell growth and division. The loss of functional menin allows cells to divide too frequently, leading to the formation of tumors characteristic of multiple endocrine neoplasia type 1. It is unclear why these tumors preferentially affect endocrine tissues. […] Mutations in the RET gene cause multiple endocrine neoplasia type 2. This gene provides instructions for producing a protein that is involved in signaling within cells. The RET protein triggers chemical reactions that instruct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene overactivate the protein’s signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in endocrine glands and other tissues.

• #15 Multiple endocrine neoplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/

  Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although the exact function of menin is unknown, it is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes. When mutations inactivate both copies of the MEN1 gene, menin is no longer available to control cell growth and division. The loss of functional menin allows cells to divide too frequently, leading to the formation of tumors characteristic of multiple endocrine neoplasia type 1. It is unclear why these tumors preferentially affect endocrine tissues. […] Mutations in the RET gene cause multiple endocrine neoplasia type 2. This gene provides instructions for producing a protein that is involved in signaling within cells. The RET protein triggers chemical reactions that instruct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene overactivate the protein’s signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in endocrine glands and other tissues.

• #16 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. […] MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. […] MEN1 may be inherited in an autosomal dominant manner, with 90% of individuals diagnosed with this disease having an affected parent, and only 10% having a de novo MEN1 germline mutation. […] The MEN1 gene, located on chromosome 11 (11q13), was first identified in 1997, and spans ~9,000 base pairs of genomic DNA containing 10 exons. […] More than 1,200 germline mutations in the MEN1 gene have been identified, which are scattered over the entire coding region of the gene without any significant hot spots or genotype-phenotype correlations. […] Approximately 5–25% of patients with MEN1 may not have mutations in the MEN1 coding region. […] MEN1 acts as a tumor suppressor gene.

• #17 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. […] MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. […] MEN1 may be inherited in an autosomal dominant manner, with 90% of individuals diagnosed with this disease having an affected parent, and only 10% having a de novo MEN1 germline mutation. […] The MEN1 gene, located on chromosome 11 (11q13), was first identified in 1997, and spans ~9,000 base pairs of genomic DNA containing 10 exons. […] More than 1,200 germline mutations in the MEN1 gene have been identified, which are scattered over the entire coding region of the gene without any significant hot spots or genotype-phenotype correlations. […] Approximately 5–25% of patients with MEN1 may not have mutations in the MEN1 coding region. […] MEN1 acts as a tumor suppressor gene.

• #18 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Germline inactivating mutations of the MEN1 or menin gene on chromosome 11 results in MEN1 Syndrome. MEN1 syndrome is inherited in an autosomal dominant pattern. In approximately 90% of cases, mutations are inherited from an affected parent, while in the remaining 10% of cases, the syndrome occurs secondary to a de novo mutation. Given this latter figure, clinical diagnostic criteria remain of utmost importance in diagnosing this syndrome. […] Marini et al. published an analysis of germline MEN1 mutations in 410 patients and found 99 different mutations, 41 frameshift, 26 missense, 13 nonsense, 11 splicing site mutations, 4 in-frame small deletions, and 4 large intragenic deletions spanning over 1 exon. The study also demonstrated that gastro-entero-pancreatic tumors were more common in patients with nonsense mutations, while thoracic neuroendocrine tumors were more common in individuals bearing a splice mutation. […] Germline mutations of CDKN1B have also been associated with pituitary adenomas, parathyroid adenomas, and pancreatic neuroendocrine tumors. Therefore, it is possible that mutations in this gene could potentially account for MEN1 syndromes without MEN1 gene mutation.

• #19 Multiple Endocrine Neoplasia Type 1 (MEN1): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/923269-overview

  Multiple endocrine neoplasia type 1 (MEN1) is an endocrine tumor syndrome caused by inactivating mutations of the MEN1 tumor suppressor gene at the 11q13 locus. […] Although usually inherited as an autosomal dominant disorder, MEN1 can also occur sporadically (without a family history) as a result of new mutations. […] The putative gene for MEN1 has been localized to band 11q13 and codes for the menin protein. Menin is involved with regulation of transcription and genome stability. Loss of heterozygosity for this region is associated with MEN1, suggesting that the gene has tumor suppression function. Patients inherit one mutated copy of the gene and require a somatic mutation of the second copy for tumor development. MEN1 is an autosomal dominant disorder, but sporadic mutations also occur. A study from Italy that was based on a large MEN1 database identified 99 mutations, ranging from nonsense to missense and different slicing site mutations.

• #20 Multiple endocrine neoplasia type 1 | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-38

  To date, more than 400 different germline or somatic mutations have been reported in MEN1 families and sporadic cases from several international studies. Mutations are distributed over the entire coding region without showing any significant hot spot region. […] The nonsense mutations and many of the frameshift insertions and deletions and donor-splice site mutations are truncating mutations predicting a loss-of-function of menin, and therefore supporting the hypothesis that MEN1 is a tumour suppressor gene.

• #21 Multiple endocrine neoplasia type 1 | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-38

  To date, more than 400 different germline or somatic mutations have been reported in MEN1 families and sporadic cases from several international studies. Mutations are distributed over the entire coding region without showing any significant hot spot region. […] The nonsense mutations and many of the frameshift insertions and deletions and donor-splice site mutations are truncating mutations predicting a loss-of-function of menin, and therefore supporting the hypothesis that MEN1 is a tumour suppressor gene.

• #22 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Germline inactivating mutations of the MEN1 or menin gene on chromosome 11 results in MEN1 Syndrome. MEN1 syndrome is inherited in an autosomal dominant pattern. In approximately 90% of cases, mutations are inherited from an affected parent, while in the remaining 10% of cases, the syndrome occurs secondary to a de novo mutation. Given this latter figure, clinical diagnostic criteria remain of utmost importance in diagnosing this syndrome. […] Marini et al. published an analysis of germline MEN1 mutations in 410 patients and found 99 different mutations, 41 frameshift, 26 missense, 13 nonsense, 11 splicing site mutations, 4 in-frame small deletions, and 4 large intragenic deletions spanning over 1 exon. The study also demonstrated that gastro-entero-pancreatic tumors were more common in patients with nonsense mutations, while thoracic neuroendocrine tumors were more common in individuals bearing a splice mutation. […] Germline mutations of CDKN1B have also been associated with pituitary adenomas, parathyroid adenomas, and pancreatic neuroendocrine tumors. Therefore, it is possible that mutations in this gene could potentially account for MEN1 syndromes without MEN1 gene mutation.

• #23 Multiple Endocrine Neoplasia Type 1 – NIDDK

  https://www.niddk.nih.gov/health-information/endocrine-diseases/multiple-endocrine-neoplasia-type-1

  MEN1 is an inherited disorder most often caused by a mutation in the MEN1 gene. The gene provides instructions for producing a protein called menin, known to play a role in keeping cells from growing and dividing too fast. […] MEN1 is an autosomal dominant disorder. This means that only one parent needs to have the defective gene to pass the disorder on to a child. If one parent has the MEN1 gene, each child has a 1 in 2 (50%) chance of having the disorder. In about 1 in 10 cases, the mutation is not inherited from either parent but develops on its own. This is a natural, random process that can occur in anyone. […] By studying different families with MEN1, scientists have identified hundreds of different mutations of the MEN1 gene that can cause the disorder. If you have any of these mutations, you are considered a carrier of MEN1, even if you have no symptoms.

• #24 Multiple endocrine neoplasia type 1 | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-1/

  Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disease, which is characterised by tumour development in the pituitary gland, parathyroid glands, and the pancreas. […] MEN1 is caused by a defect in a gene called the MEN1 gene. This gene is found on Chromosome 11 and its job is to produce the protein menin. Faults or 'spelling mistakes’ (mutations) in this gene have been found in over 90% of patients with MEN1; however, in some patients and their families with the condition, a gene fault still cannot be found. The mutations result in failure to produce the correct menin protein and the loss of the protein allows tumours to develop. Not every patient will have a family history of MEN1 as the mutation can arise anew in an individual. […] MEN1 is an inherited condition due to an abnormality or spelling mistake in the MEN1 gene, which can be passed on from parent to child. It is inherited in an 'autosomal dominant’ way. This means it is not a sex-linked condition and that there is a 50% (1 in 2) chance that a child will inherit the abnormal gene, and therefore, MEN1. About 10% of patients with MEN1 do not have a family history and are the first people to develop a mutation in their family.

• #25 Multiple Endocrine Neoplasia Type 1 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/multiple-endocrine-neoplasia-type-1

  Approximately 90 percent of patients with MEN1 inherit an altered copy of the MEN1 gene from a parent who also has MEN1. […] In the remaining 10 percent of patients, MEN1 results from the development of a new mutation in the MEN1 gene in one of the fathers sperm, mothers eggs, or in a cell of the developing fetus. […] A person with a mutation in one copy of the MEN1 gene in all the cells of their body have a 50 percent or one in two chance of passing this same alteration onto his children. […] Individuals with MEN1 are at increased risk to develop endocrine and non-endocrine tumors. […] The two MEN1-related endocrine tumor types most likely to become malignant are: Carcinoid tumors and Tumors of the gastro-entero-pancreatic (GEP) tract. […] Almost all individuals with a germline MEN1 mutation will develop features of the condition.

• #26 Multiple Endocrine Neoplasia Type 1 – NIDDK

  https://www.niddk.nih.gov/health-information/endocrine-diseases/multiple-endocrine-neoplasia-type-1

  MEN1 is an inherited disorder most often caused by a mutation in the MEN1 gene. The gene provides instructions for producing a protein called menin, known to play a role in keeping cells from growing and dividing too fast. […] MEN1 is an autosomal dominant disorder. This means that only one parent needs to have the defective gene to pass the disorder on to a child. If one parent has the MEN1 gene, each child has a 1 in 2 (50%) chance of having the disorder. In about 1 in 10 cases, the mutation is not inherited from either parent but develops on its own. This is a natural, random process that can occur in anyone. […] By studying different families with MEN1, scientists have identified hundreds of different mutations of the MEN1 gene that can cause the disorder. If you have any of these mutations, you are considered a carrier of MEN1, even if you have no symptoms.

• #27 Multiple Endocrine Neoplasia Type 1 | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/genetic-syndromes/multiple-endocrine-neoplasia-type-1.html

  Multiple endocrine neoplasia type 1 is caused by changes in gene known as MEN1. This gene carries important information that controls cell growth and function. A change that causes the gene to not work correctly is called a mutation. […] Children who have multiple endocrine neoplasia type 1 inherit 1 normal copy of the MEN1 gene and 1 copy that is changed (mutated). This change makes the gene not work correctly. It is called a MEN1 mutation. […] About 90% (9 out of 10) of children with MEN1 inherit the MEN1 gene mutation from a parent who also has this disorder. The other 10% (1 in 10) of children with this disorder have a new MEN1 mutation that did not come from a parent. These children have no history of this disorder in their family. In such cases, an MEN1 gene mutation happened either in: An ovum (egg) or sperm that formed the child; 1 of the child’s cells before they were born. […] No matter how they acquired the MEN1 mutation, people with multiple endocrine neoplasia type 1 have a 50% (1 in 2) chance of passing it on to their children.

• #28 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Multiple-Endocrine-Neoplasia-Type-1-(MEN1).aspx

  Sometimes referred to as Wermer syndrome, multiple endocrine neoplasia type 1 (MEN1) is an inherited health condition that involves the growth of tumors in the endocrine glands. […] Multiple endocrine neoplasia type 1 (MEN1) is an inherited condition caused by a mutation in the MEN1 gene. People who have inherited the altered mutation from their parents have a significantly increased of developing tumors associated with the endocrine glands. […] It has been suggested that the gene mutation in MEN1 changes the regulation of cell growth and division due to abnormal function of the cyclin-dependent kinase inhibitor (CDKI) proteins. However, more research is required to investigate the etiology of the condition. […] MEN1 is inherited in an autosomal dominant inheritance pattern. This means that an individual only needs to inherit one copy (out of two; one from each parent) in order to be affected by the condition. As a result, if one parent is affected, each child has a 50% chance of inheriting the gene mutation and carrying an increased risk of developing a tumor of the endocrine glands. Approximately 10% of patients with MEN1 do not have a family history of the condition and have a spontaneous or de novo gene mutation.

• #29 Multiple endocrine neoplasia type 1 (MEN1)

  https://atlasgeneticsoncology.org/cancer-prone-disease/10008/multiple-endocrine-neoplasia-type-1-(men1)

  Multiple Endocrine Neoplasia type 1 or Wermers syndrome (MEN1) is a complex disease predisposing to a variety of endocrine tumors multifocal and/or bilateral localization and uncommonly to non-endocrine tumors mainly of the skin and central nervous system. […] Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with high penetrance (increasing with age: 90% by age 50 yrs) but variable expressivity (with phenotype/genotype correlations); frequency is unknown but estimated between 1/50000 and 1/30000. […] Germinal causes multiple endocrine neoplasia type 1.

• #30 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication | Test Fact Sheet

  https://arupconsult.com/ati/multiple-endocrine-neoplasia-type-1

  Multiple endocrine neoplasia type 1 (MEN1) is a hereditary syndrome caused by pathogenic variants in the MEN1 gene and is associated with a combination of endocrine and nonendocrine tumors. […] MEN1 is caused by pathogenic germline variants in the MEN1 tumor suppressor gene. Approximately 10% of these variants are de novo variants. […] The penetrance for all clinical features of MEN1 syndrome is approximately 50% by 20 years of age and is 95% by 40 years of age. […] A pathogenic MEN1 variant is identified in 80-90% of individuals who meet clinical criteria for MEN1 syndrome and have a family history of related cancers.

• #31 Multiple Endocrine Neoplasia Type 1 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/multiple-endocrine-neoplasia-type-1

  Approximately 90 percent of patients with MEN1 inherit an altered copy of the MEN1 gene from a parent who also has MEN1. […] In the remaining 10 percent of patients, MEN1 results from the development of a new mutation in the MEN1 gene in one of the fathers sperm, mothers eggs, or in a cell of the developing fetus. […] A person with a mutation in one copy of the MEN1 gene in all the cells of their body have a 50 percent or one in two chance of passing this same alteration onto his children. […] Individuals with MEN1 are at increased risk to develop endocrine and non-endocrine tumors. […] The two MEN1-related endocrine tumor types most likely to become malignant are: Carcinoid tumors and Tumors of the gastro-entero-pancreatic (GEP) tract. […] Almost all individuals with a germline MEN1 mutation will develop features of the condition.

• #32 Multiple endocrine neoplasia type 1 (MEN1)

  https://atlasgeneticsoncology.org/cancer-prone-disease/10008/multiple-endocrine-neoplasia-type-1-(men1)

  Multiple Endocrine Neoplasia type 1 or Wermers syndrome (MEN1) is a complex disease predisposing to a variety of endocrine tumors multifocal and/or bilateral localization and uncommonly to non-endocrine tumors mainly of the skin and central nervous system. […] Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with high penetrance (increasing with age: 90% by age 50 yrs) but variable expressivity (with phenotype/genotype correlations); frequency is unknown but estimated between 1/50000 and 1/30000. […] Germinal causes multiple endocrine neoplasia type 1.

• #33 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. […] MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. […] MEN1 may be inherited in an autosomal dominant manner, with 90% of individuals diagnosed with this disease having an affected parent, and only 10% having a de novo MEN1 germline mutation. […] The MEN1 gene, located on chromosome 11 (11q13), was first identified in 1997, and spans ~9,000 base pairs of genomic DNA containing 10 exons. […] More than 1,200 germline mutations in the MEN1 gene have been identified, which are scattered over the entire coding region of the gene without any significant hot spots or genotype-phenotype correlations. […] Approximately 5–25% of patients with MEN1 may not have mutations in the MEN1 coding region. […] MEN1 acts as a tumor suppressor gene.

• #34 Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0938-8

  Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinations, caused by inactivating heterozygote mutations of the MEN1 gene. […] Germinal inactivating heterozygote mutations of the MEN1 tumour suppressor gene have been identified as responsible for the development of the syndrome, mostly through the loss of the second wild type copy of the gene at somatic level of specifically predisposed neuroendocrine tissues. […] The lack of a direct genotype-phenotype correlation does not allow to foresee the exact clinical course and tumour localization of the disease, to program personalised diagnostic screening or therapeutic plans. […] The analysis of our MEN1 database confirmed PHPT as the most common manifestation of the syndrome, reaching a penetrance of over 95% after the age of 55, followed by GEP-NETs (about 60%) and pituitary tumours (about 52%), respectively.

• #35 Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0938-8

  Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinations, caused by inactivating heterozygote mutations of the MEN1 gene. […] Germinal inactivating heterozygote mutations of the MEN1 tumour suppressor gene have been identified as responsible for the development of the syndrome, mostly through the loss of the second wild type copy of the gene at somatic level of specifically predisposed neuroendocrine tissues. […] The lack of a direct genotype-phenotype correlation does not allow to foresee the exact clinical course and tumour localization of the disease, to program personalised diagnostic screening or therapeutic plans. […] The analysis of our MEN1 database confirmed PHPT as the most common manifestation of the syndrome, reaching a penetrance of over 95% after the age of 55, followed by GEP-NETs (about 60%) and pituitary tumours (about 52%), respectively.

• #36 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Germline inactivating mutations of the MEN1 or menin gene on chromosome 11 results in MEN1 Syndrome. MEN1 syndrome is inherited in an autosomal dominant pattern. In approximately 90% of cases, mutations are inherited from an affected parent, while in the remaining 10% of cases, the syndrome occurs secondary to a de novo mutation. Given this latter figure, clinical diagnostic criteria remain of utmost importance in diagnosing this syndrome. […] Marini et al. published an analysis of germline MEN1 mutations in 410 patients and found 99 different mutations, 41 frameshift, 26 missense, 13 nonsense, 11 splicing site mutations, 4 in-frame small deletions, and 4 large intragenic deletions spanning over 1 exon. The study also demonstrated that gastro-entero-pancreatic tumors were more common in patients with nonsense mutations, while thoracic neuroendocrine tumors were more common in individuals bearing a splice mutation. […] Germline mutations of CDKN1B have also been associated with pituitary adenomas, parathyroid adenomas, and pancreatic neuroendocrine tumors. Therefore, it is possible that mutations in this gene could potentially account for MEN1 syndromes without MEN1 gene mutation.

• #37 Multiple Endocrine Neoplasia, Type 1 (MEN 1) – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-1-men-1

  Multiple endocrine neoplasia, type 1 (MEN 1) is an autosomal dominant syndrome characterized by hyperplasia or adenomas of the parathyroid glands, pancreatic islet cell tumors (also known as pancreatic neuroendocrine tumors), and/or pituitary gland tumors. […] MEN 1 is caused by an inactivating mutation of the MEN1 gene that encodes the nuclear protein menin; 500 mutations of this gene have been identified. […] The exact function of menin is unknown, but it appears to have tumor-suppressing effects. […] Some mutations are thought to be associated with a higher rate of pancreatic islet cell tumor development, a higher rate of distant metastases, and more aggressive disease.

• #38 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. […] MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. […] MEN1 may be inherited in an autosomal dominant manner, with 90% of individuals diagnosed with this disease having an affected parent, and only 10% having a de novo MEN1 germline mutation. […] The MEN1 gene, located on chromosome 11 (11q13), was first identified in 1997, and spans ~9,000 base pairs of genomic DNA containing 10 exons. […] More than 1,200 germline mutations in the MEN1 gene have been identified, which are scattered over the entire coding region of the gene without any significant hot spots or genotype-phenotype correlations. […] Approximately 5–25% of patients with MEN1 may not have mutations in the MEN1 coding region. […] MEN1 acts as a tumor suppressor gene.

• #39 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Germline inactivating mutations of the MEN1 or menin gene on chromosome 11 results in MEN1 Syndrome. MEN1 syndrome is inherited in an autosomal dominant pattern. In approximately 90% of cases, mutations are inherited from an affected parent, while in the remaining 10% of cases, the syndrome occurs secondary to a de novo mutation. Given this latter figure, clinical diagnostic criteria remain of utmost importance in diagnosing this syndrome. […] Marini et al. published an analysis of germline MEN1 mutations in 410 patients and found 99 different mutations, 41 frameshift, 26 missense, 13 nonsense, 11 splicing site mutations, 4 in-frame small deletions, and 4 large intragenic deletions spanning over 1 exon. The study also demonstrated that gastro-entero-pancreatic tumors were more common in patients with nonsense mutations, while thoracic neuroendocrine tumors were more common in individuals bearing a splice mutation. […] Germline mutations of CDKN1B have also been associated with pituitary adenomas, parathyroid adenomas, and pancreatic neuroendocrine tumors. Therefore, it is possible that mutations in this gene could potentially account for MEN1 syndromes without MEN1 gene mutation.

• #40 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Germline inactivating mutations of the MEN1 or menin gene on chromosome 11 results in MEN1 Syndrome. MEN1 syndrome is inherited in an autosomal dominant pattern. In approximately 90% of cases, mutations are inherited from an affected parent, while in the remaining 10% of cases, the syndrome occurs secondary to a de novo mutation. Given this latter figure, clinical diagnostic criteria remain of utmost importance in diagnosing this syndrome. […] Marini et al. published an analysis of germline MEN1 mutations in 410 patients and found 99 different mutations, 41 frameshift, 26 missense, 13 nonsense, 11 splicing site mutations, 4 in-frame small deletions, and 4 large intragenic deletions spanning over 1 exon. The study also demonstrated that gastro-entero-pancreatic tumors were more common in patients with nonsense mutations, while thoracic neuroendocrine tumors were more common in individuals bearing a splice mutation. […] Germline mutations of CDKN1B have also been associated with pituitary adenomas, parathyroid adenomas, and pancreatic neuroendocrine tumors. Therefore, it is possible that mutations in this gene could potentially account for MEN1 syndromes without MEN1 gene mutation.

• #41 Multiple endocrine neoplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/

  Mutations in the CDKN1B gene cause multiple endocrine neoplasia type 4. This gene provides instructions for making a protein called p27. Like the menin protein, p27 is a tumor suppressor that helps control the growth and division of cells. Mutations in the CDKN1B gene reduce the amount of functional p27, which allows cells to grow and divide unchecked. This unregulated cell division can lead to the development of tumors in endocrine glands and other tissues.

• #42 Multiple Endocrine Neoplasia Syndromes (MEN) – Hormonal and Metabolic Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/hormonal-and-metabolic-disorders/multiple-endocrine-neoplasia-syndromes/multiple-endocrine-neoplasia-syndromes-men

  Multiple endocrine neoplasia syndromes are caused by gene mutations, so they tend to run in families. […] Multiple endocrine neoplasia syndromes are caused by genetic mutations, which are usually inherited from a parent. A single gene responsible for MEN 1 has been identified. […] MEN type 4 is similar to MEN type 1 but is due to an abnormality in a different gene and is much less common.

• #43 Multiple endocrine neoplasia type 1 (MEN1): Not only inherited endocrine tumors | Genetics in Medicine

  https://www.nature.com/articles/gim2009126

  The MEN1 gene was identified by positional cloning and is the only gene known to be associated with MEN1 syndrome. […] More than 1000 different germline MEN1 mutations are scattered in and around the open reading frame without significant clustering that corresponds to functional domains of the protein. […] MEN1 germline mutations are identified by sequencing analysis in about 80-90% of probands with familial MEN1 syndrome and about 65% of individuals with simplex MEN1 syndrome. […] Approximately 13% of MEN1 germline mutations may consist of large deletions, detectable by a Southern blot analysis or other gene dosage procedures. […] Genetic counseling of patients and closely related family members has a central role in the management of hereditary diseases, such as MEN1 syndrome.

• #44 Multiple endocrine neoplasia type 1 (MEN1): Not only inherited endocrine tumors | Genetics in Medicine

  https://www.nature.com/articles/gim2009126

  The MEN1 gene was identified by positional cloning and is the only gene known to be associated with MEN1 syndrome. […] More than 1000 different germline MEN1 mutations are scattered in and around the open reading frame without significant clustering that corresponds to functional domains of the protein. […] MEN1 germline mutations are identified by sequencing analysis in about 80-90% of probands with familial MEN1 syndrome and about 65% of individuals with simplex MEN1 syndrome. […] Approximately 13% of MEN1 germline mutations may consist of large deletions, detectable by a Southern blot analysis or other gene dosage procedures. […] Genetic counseling of patients and closely related family members has a central role in the management of hereditary diseases, such as MEN1 syndrome.

• #45 Multiple endocrine neoplasia, type 1 (MEN 1) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/men-1/diagnosis-treatment/drc-20446823

  Genetic testing may help find out whether someone has a genetic change that causes MEN 1. If so, that person’s children are at risk of having the same genetic change and getting MEN 1. Parents and siblings also are at risk of having the genetic change that causes MEN 1. […] But genetic testing cannot find all the genetic changes that can cause MEN 1. If genetic testing doesn’t confirm MEN 1, but it’s likely that a person has it, more testing is needed.

• #46 Multiple Endocrine Neoplasia Type 1 and the MEN1 gene – Sydney Cancer Genetics

  https://www.sydneycancergenetics.com.au/genes-and-syndromes/multiple-endocrine-neoplasia-type-1-and-the-men1-gene/

  Multiple Endocrine Neoplasia syndrome Type 1 affects 1 in 10,000 people. It is caused by a mutation in the MEN1 gene. […] Sixty percent of individuals who meet the clinical diagnostic criteria for MEN1 carry a germline MEN1 mutation. This rises to 90% if there is close family member with an MEN1 type of tumour. […] In individuals with MEN1, 10% of the time, they are the first person in their family to carry a MEN1 mutation. This is called a de novo mutation, meaning „from new”. That is, the mutation occurred either in the making of that particular sperm or egg or the first few cell divisions after fertilisation.

• #47 Multiple endocrine neoplasia, type 1 (MEN 1) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/men-1/diagnosis-treatment/drc-20446823

  Genetic testing may help find out whether someone has a genetic change that causes MEN 1. If so, that person’s children are at risk of having the same genetic change and getting MEN 1. Parents and siblings also are at risk of having the genetic change that causes MEN 1. […] But genetic testing cannot find all the genetic changes that can cause MEN 1. If genetic testing doesn’t confirm MEN 1, but it’s likely that a person has it, more testing is needed.

• #48 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Germline inactivating mutations of the MEN1 or menin gene on chromosome 11 results in MEN1 Syndrome. MEN1 syndrome is inherited in an autosomal dominant pattern. In approximately 90% of cases, mutations are inherited from an affected parent, while in the remaining 10% of cases, the syndrome occurs secondary to a de novo mutation. Given this latter figure, clinical diagnostic criteria remain of utmost importance in diagnosing this syndrome. […] Marini et al. published an analysis of germline MEN1 mutations in 410 patients and found 99 different mutations, 41 frameshift, 26 missense, 13 nonsense, 11 splicing site mutations, 4 in-frame small deletions, and 4 large intragenic deletions spanning over 1 exon. The study also demonstrated that gastro-entero-pancreatic tumors were more common in patients with nonsense mutations, while thoracic neuroendocrine tumors were more common in individuals bearing a splice mutation. […] Germline mutations of CDKN1B have also been associated with pituitary adenomas, parathyroid adenomas, and pancreatic neuroendocrine tumors. Therefore, it is possible that mutations in this gene could potentially account for MEN1 syndromes without MEN1 gene mutation.

• #49 Multiple Endocrine Neoplasia Type 1

  https://www.rwjbh.org/treatment-care/neuroscience/neurosurgery/conditions-treated/multiple-endocrine-neoplasia-type-1/

  MEN1 is suspected when a person has at least 2 of these tumors: parathyroid tumor, pancreatic neuroendocrine tumor, or a pituitary gland tumor. Genetic testing for mutations in the MEN1 gene are also possible, as about 90% of individuals diagnosed with the disorder have a genetic marker, whereas the other 10% have a rare genetic mutation causing MEN1. […] People diagnosed with MEN1 need regular screenings to allow for treatment of tumors and recurring tumors. […] MEN1 is often treated through surgical removal of the affected gland, although medication therapy may also be used for prolactin-secreting pituitary tumors. […] Treatment for cancerous tumors depends on which endocrine gland is affected and whether the growths are cancerous or benign.

• #50 Multiple endocrine neoplasia type 1: Clinical manifestations and diagnosis – UpToDate

  https://www.uptodate.com/contents/multiple-endocrine-neoplasia-type-1-clinical-manifestations-and-diagnosis

  Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant predisposition to tumors of the parathyroid glands (which occur in the large majority of patients by age 50 years), anterior pituitary, and enteropancreatic endocrine cells; hence, the mnemonic device of the „3 Ps” (table 1) [1]. […] The recognition of MEN1 is important as individuals who inherit a pathogenic variant in the MEN1 gene may be at risk of considerable morbidity and premature mortality due to MEN1-associated tumors. […] Multiple endocrine neoplasia type 1 (MEN1) is a rare heritable disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary, and pancreatic islet cells (table 1) [1,5]. […] The presence of MEN1 is defined clinically as the occurrence of two or more primary MEN1 tumor types, or in family members of a patient with a clinical diagnosis of MEN1, the occurrence of one of the MEN1-associated tumors (figure 1). […] The clinical presentation of patients with multiple endocrine neoplasia type 1 (MEN1) is determined by the site and spectrum of tumor development and/or consequences of hormonal hypersecretion.

• #51 Multiple endocrine neoplasia type 1: Clinical manifestations and diagnosis – UpToDate

  https://www.uptodate.com/contents/multiple-endocrine-neoplasia-type-1-clinical-manifestations-and-diagnosis

  Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant predisposition to tumors of the parathyroid glands (which occur in the large majority of patients by age 50 years), anterior pituitary, and enteropancreatic endocrine cells; hence, the mnemonic device of the „3 Ps” (table 1) [1]. […] The recognition of MEN1 is important as individuals who inherit a pathogenic variant in the MEN1 gene may be at risk of considerable morbidity and premature mortality due to MEN1-associated tumors. […] Multiple endocrine neoplasia type 1 (MEN1) is a rare heritable disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary, and pancreatic islet cells (table 1) [1,5]. […] The presence of MEN1 is defined clinically as the occurrence of two or more primary MEN1 tumor types, or in family members of a patient with a clinical diagnosis of MEN1, the occurrence of one of the MEN1-associated tumors (figure 1). […] The clinical presentation of patients with multiple endocrine neoplasia type 1 (MEN1) is determined by the site and spectrum of tumor development and/or consequences of hormonal hypersecretion.

• #52 Multiple endocrine neoplasia type 1 (MEN1): Not only inherited endocrine tumors | Genetics in Medicine

  https://www.nature.com/articles/gim2009126

  The MEN1 gene was identified by positional cloning and is the only gene known to be associated with MEN1 syndrome. […] More than 1000 different germline MEN1 mutations are scattered in and around the open reading frame without significant clustering that corresponds to functional domains of the protein. […] MEN1 germline mutations are identified by sequencing analysis in about 80-90% of probands with familial MEN1 syndrome and about 65% of individuals with simplex MEN1 syndrome. […] Approximately 13% of MEN1 germline mutations may consist of large deletions, detectable by a Southern blot analysis or other gene dosage procedures. […] Genetic counseling of patients and closely related family members has a central role in the management of hereditary diseases, such as MEN1 syndrome.

• #53 Multiple endocrine neoplasia 1 – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/multiple-endocrine-neoplasia-109954/

  Multiple endocrine neoplasia type 1 (MEN1) is a inherited cancer syndrome found in men and women that increases the chance for tumors in the hormone producing organs of the endocrine system. […] MEN1 can run in families or can occur as the result of a new disease causing gene change in the individual. […] Multiple endocrine neoplasia type 1 happens because of changes in the MEN1 gene. […] Multiple endocrine neoplasia type 1 is caused by mutations or changes in the MEN1 gene. […] A nonworking copy of the MEN1 gene leads to increased risk for cancer. […] Multiple endocrine neoplasia type 1 (MEN1) can be inherited from a parent or occur randomly as a new mutation during fetal development. […] About 10% of cases of MEN1 are due to de novo mutations. Therefore, 90% of the time, MEN1 is inherited from a parent. […] Multiple endocrine neoplasia, Type 1 (MEN1) is caused by changes or mutations in the MEN1 gene. […] A cancer genetic counselor can help explain MEN1, the gene mutation and how it is inherited.

• #54 Childhood Multiple Endocrine Neoplasia (MEN) Syndromes Treatment – NCI

  https://www.cancer.gov/types/multiple-endocrine-neoplasia/patient-child-men-syndromes-treatment-pdq

  Multiple endocrine neoplasia (MEN) syndromes are inherited disorders that affect the endocrine system. […] There are several types of MEN syndromes and each type may cause different conditions or cancers. […] MEN1 syndrome usually causes tumors in the parathyroid gland, pituitary gland, or islet cells of the pancreas. […] A diagnosis of MEN1 syndrome is made when tumors are found in two of the following glands or organs: parathyroid gland, pituitary gland, or islet cells in the pancreas. […] MEN2A syndrome may cause medullary thyroid cancer, pheochromocytoma, or parathyroid gland disease. […] A mutation in the RET gene is usually linked to medullary thyroid cancer in MEN2 syndrome. […] Children with MEN2A syndrome, MEN2B syndrome, or FMTC may need genetic testing. […] Genetic counseling also includes a discussion of the risk of MEN2 syndrome for the child and other family members.

• #55 Multiple Endocrine Neoplasia Type 1

  https://www.rwjbh.org/treatment-care/neuroscience/neurosurgery/conditions-treated/multiple-endocrine-neoplasia-type-1/

  MEN1 is suspected when a person has at least 2 of these tumors: parathyroid tumor, pancreatic neuroendocrine tumor, or a pituitary gland tumor. Genetic testing for mutations in the MEN1 gene are also possible, as about 90% of individuals diagnosed with the disorder have a genetic marker, whereas the other 10% have a rare genetic mutation causing MEN1. […] People diagnosed with MEN1 need regular screenings to allow for treatment of tumors and recurring tumors. […] MEN1 is often treated through surgical removal of the affected gland, although medication therapy may also be used for prolactin-secreting pituitary tumors. […] Treatment for cancerous tumors depends on which endocrine gland is affected and whether the growths are cancerous or benign.

• #56 Multiple endocrine neoplasia 1 (MEN1) | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/pre-cancerous-and-genetic-conditions/multiple-endocrine-neoplasia-1-men1

  If you have MEN1, you will have regular tests to check for early signs of a tumour developing. This is called screening. […] The main treatment for parathyroid tumours is surgery. […] People with MEN1 may develop cancerous (malignant) or benign tumours in the pancreas or in the part of the small bowel next to the pancreas. […] MEN1 can cause benign tumours in the pituitary gland. […] MEN1 can cause tumours in other parts of the body, including the adrenal glands, the skin and fatty or connective tissue.

• #57 Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0938-8

  Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinations, caused by inactivating heterozygote mutations of the MEN1 gene. […] Germinal inactivating heterozygote mutations of the MEN1 tumour suppressor gene have been identified as responsible for the development of the syndrome, mostly through the loss of the second wild type copy of the gene at somatic level of specifically predisposed neuroendocrine tissues. […] The lack of a direct genotype-phenotype correlation does not allow to foresee the exact clinical course and tumour localization of the disease, to program personalised diagnostic screening or therapeutic plans. […] The analysis of our MEN1 database confirmed PHPT as the most common manifestation of the syndrome, reaching a penetrance of over 95% after the age of 55, followed by GEP-NETs (about 60%) and pituitary tumours (about 52%), respectively.

• #58 Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0938-8

  The progressive application of MEN1 genetic test worldwide notably decreased MEN1-associated morbidity and mortality. Unfortunately, MEN1 syndrome shows no direct correlation between genotype and phenotype. […] The detailed intra-familial analysis of clinical phenotype, age of tumour onset, multiple tumour association, disease penetrance, severity, course and prognosis in all our pedigrees with more than one affected member confirmed the total absence of correlation between these characteristics and the MEN1 mutation.

• #59 Multiple endocrine neoplasia – Wikipedia

  https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia

  Multiple endocrine neoplasia (abbreviated MEN) is a condition which encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. […] Causes RET receptor defect Which is growth signal receptor, its type of self-sufficiency of growth signals. […] MEN syndromes are inherited as autosomal dominant disorders. […] MEN1 gene mutations can be identified in 70-95% of MEN1 patients and in about 20% of familial isolated hyperparathyroidism cases. […] MEN1 patients usually have a family history of MEN1. Inheritance is autosomal dominant; any affected parent has a 50% chance to transmit the disease to his or her progeny. […] Many endocrine tumors in MEN1 are benign and cause symptoms by overproduction of hormones or local mass effects, while other MEN1 tumors are associated with an elevated risk for malignancy. […] About one-third of patients affected with MEN1 will die early from MEN1-related cancer or associated malignancy. […] Consequently, the average age of death in untreated individuals with MEN1 is significantly lower (55.4 years for men and 46.8 years for women) than that of the general population.

• #60 Multiple endocrine neoplasia – Wikipedia

  https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia

  Multiple endocrine neoplasia (abbreviated MEN) is a condition which encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. […] Causes RET receptor defect Which is growth signal receptor, its type of self-sufficiency of growth signals. […] MEN syndromes are inherited as autosomal dominant disorders. […] MEN1 gene mutations can be identified in 70-95% of MEN1 patients and in about 20% of familial isolated hyperparathyroidism cases. […] MEN1 patients usually have a family history of MEN1. Inheritance is autosomal dominant; any affected parent has a 50% chance to transmit the disease to his or her progeny. […] Many endocrine tumors in MEN1 are benign and cause symptoms by overproduction of hormones or local mass effects, while other MEN1 tumors are associated with an elevated risk for malignancy. […] About one-third of patients affected with MEN1 will die early from MEN1-related cancer or associated malignancy. […] Consequently, the average age of death in untreated individuals with MEN1 is significantly lower (55.4 years for men and 46.8 years for women) than that of the general population.

• #61 Multiple endocrine neoplasia – Wikipedia

  https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia

  Multiple endocrine neoplasia (abbreviated MEN) is a condition which encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. […] Causes RET receptor defect Which is growth signal receptor, its type of self-sufficiency of growth signals. […] MEN syndromes are inherited as autosomal dominant disorders. […] MEN1 gene mutations can be identified in 70-95% of MEN1 patients and in about 20% of familial isolated hyperparathyroidism cases. […] MEN1 patients usually have a family history of MEN1. Inheritance is autosomal dominant; any affected parent has a 50% chance to transmit the disease to his or her progeny. […] Many endocrine tumors in MEN1 are benign and cause symptoms by overproduction of hormones or local mass effects, while other MEN1 tumors are associated with an elevated risk for malignancy. […] About one-third of patients affected with MEN1 will die early from MEN1-related cancer or associated malignancy. […] Consequently, the average age of death in untreated individuals with MEN1 is significantly lower (55.4 years for men and 46.8 years for women) than that of the general population.

• #62 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614

  Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disease of autosomal dominant inheritance, with an estimated prevalence of 320/100 000. Its main feature is neuroendocrine neoplasia in the parathyroid glands, the endocrine pancreas, the duodenum, and the pituitary gland. […] The disease is caused by mutations in the MEN1 gene. […] The MEN1 gene which was discovered in 1997. […] MEN1 is caused by a germline mutation of the MEN1 gene on chromosome 11q13 which codes for the protein menin. Menin is considered to be a tumor suppressor. […] Currently, no mutation can be detected in 510% of cases presenting with the clinical picture of MEN1 syndrome. […] The identification of the gene that causes MEN1 has deepened our understanding of the disease and led to advances in the diagnosis and treatment of the condition.

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