What chromosome is menin on?
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. Over 1300 mutations have been reported to date (2010).
What is MEN1 gene?
The MEN1 gene provides instructions for making a protein called menin. This protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. Although the exact function of menin is unclear, it is likely involved in several important cell functions.
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.
What is men2a syndrome?
A rare, genetic disorder that affects the endocrine glands and causes a type of thyroid cancer called medullary thyroid cancer, pheochromocytoma, and parathyroid gland cancer. It may also cause benign (noncancerous) tumors in the parathyroid glands and adrenal glands.
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.
How common is MEN1?
How common is MEN1? It is estimated that about 1 in 30,000 people has MEN1. About 10% of people with MEN1 do not have a family history of the condition; they have a de novo (new) mutation in the MEN1 gene.
What is the life expectancy of someone with MEN1?
Nevertheless, despite the advances in treatment of MEN1 tumors and associated functional syndromes, the life expectancy of patients remains shorter than normal population (death mean age: 55 years) (Norton et al. 2015a). MEN1 probands present a mean interval of survival of 18 years after the clinical diagnosis.
Is MEN1 inherited?
MEN1 is a genetic condition. This means that the cancer risk and other features of MEN1 can be passed from generation to generation in a family. The gene associated with MEN1 is also called MEN1.
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.
What is Carney syndrome?
Listen to pronunciation. (KAR-nee SIN-drome) A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves. There are two types of Carney syndrome, which are caused by mutations (changes) in different genes.
What is Pollock disease?
Peyronie’s disease is an acquired penile deformity (curvature) due to scar tissue in the penile shaft. This can cause penile pain and discomfort, can reduce or diminish the quality of erections, can complicate sexual intercourse, and can cause significant psychological burden for affected men and their sexual partners.