What is MYH syndrome?

What is MYH syndrome?

MUTYH-associated polyposis (also known as MYH-associated polyposis) is an autosomal recessive polyposis syndrome. The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, MUTYH. The MUTYH gene encodes a base excision repair protein, which corrects oxidative damage to DNA.

Is CHEK2 hereditary?

Mutations in the CHEK2 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a CHEK2 mutation have a 50% chance of having the mutation as well.

Is CHEK2 the same as BRCA?

Mutations in the BRCA1 and BRCA2 genes are responsible for only a part of hereditary breast cancer (HBC). The origins of “non-BRCA” HBC in families may be attributed in part to rare mutations in genes conferring moderate risk, such as CHEK2, which encodes for an upstream regulator of BRCA1.

Can a mutation in the MYH gene cause map?

A mutation (or pathogenic variant) is an alteration in a gene that affects the gene’s function. Mutations in the MUTYH gene, also known as the MYH gene, are known to cause MAP.

What is the function of the MUTYH gene?

From Genetics Home Reference. Learn more The MUTYH gene provides instructions for making an enzyme called MYH glycosylase, which is involved in the repair of DNA. This enzyme corrects particular errors that are made when DNA is copied (DNA replication) in preparation for cell division.

Where is the MYH6 gene located in the heart?

The MYH6 gene provides instructions for making a protein known as the cardiac alpha (α)-myosin heavy chain. This protein is found in heart (cardiac) muscle cells, where it forms part of a larger protein called type II myosin.

Can a mutation in the MYH gene cause colon cancer?

This means that the risk of colon polyps and colorectal cancer can be passed from generation to generation in a family. A mutation (or pathogenic variant) is an alteration in a gene that affects the gene’s function. Mutations in the MUTYH gene, also known as the MYH gene, are known to cause MAP.