What does the MEN1 gene do?

What does the MEN1 gene do?

MEN1 is an inherited disorder most often caused by a mutation in the MEN1 link 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 link disorder.

What type of gene is MEN1?

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of tumors of the parathyroids, pancreas, and anterior pituitary. The MEN1 gene, which was identified in 1997, consists of 10 exons that encode a 610-amino acid protein referred to as menin.

Where is the MEN1 gene?

The gene is located on long arm of chromosome 11 (11q13) between base pairs 64,570,985 and 64,578,765. It has 10 exons and encodes a 610-amino acid protein.

What is the difference between MEN1 and MEN2?

MEN1 predisposes to the development of tumors in target neuroendocrine tissues. Type 2 multiple endocrine neoplasia (MEN2), in contrast, is caused by mutations in the RET proto-oncogene and typically presents as medullary thyroid carcinoma, hyperparathyroidism, or pheochromocytoma.

Does everyone have MEN1 gene?

MEN 1 is a rare condition. It has been estimated that it affects between 1 in 10,000 to 1 in 30,000 people. The same number of men and women are affected. The age at which people with MEN1 start to develop tumours is variable and is not predictable based on the family history.

Can you have MEN1 and MEN2?

The multiple endocrine neoplasias (MEN1, MEN2) are rare disorders involving germline inactivation/mutation of different genes (MEN1, RET). It is even more rare to find features of MEN1 and MEN2 both in one patient, with genetic mutation of only one, but not both, genes involved.

How common is MEN2?

How common is MEN2? It is estimated that about 1 in 30,000 people has MEN2. Most people with MEN2B do not have any family history of the condition. They have a de novo (new) mutation in the RET gene.

Is there a cure for MEN1?

The excess hormones can cause a wide variety of signs and symptoms. These can include tiredness, bone pain, broken bones, kidney stones, and ulcers in the stomach or intestines. MEN 1 can’t be cured.

How do you test for MEN2?

Genetic testing is the mainstay in the diagnosis of multiple endocrine neoplasia type 2 (MEN2) syndromes. Perform genetic screening for RET mutations in all index patients. If a mutation is identified, also screen family members who are at risk.

Which is the only gene known to cause MEN1 syndrome?

Molecular genetic testing of MEN1, the only genein which pathogenic variants are known to cause MEN1 syndrome, detects a heterozygousMEN1pathogenic variantin approximately 80%-90% of probands with familialMEN1 syndrome and in approximately 65% of simplexcases (i.e., a single occurrence of MEN1 syndrome in the family). Management.

Is there genetic testing for MEN1 endocrine neoplasia?

Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). [1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests.

What are the diagnostic criteria for MEN1 syndrome?

Diagnosis/testing. Clinical diagnostic criteria for MEN1 syndrome include the presence of two endocrine tumors that are parathyroid, pituitary, or GEP tract tumors.

How many chapters are there in a genereview?

GeneReviews currently comprises 680 chapters. The two general formats for GeneReviews are: chapters focused on a single gene or phenotype (~95%) and overviews summarizing genetic causes of common conditions (e.g., deafness and hearing loss, Alzheimer disease) (~5%). To ensure continuing relevant and medically actionable…