What is MUTYH associated colorectal cancer?

What is MUTYH associated colorectal cancer?

MUTYH (MYH)-associated polyposis (MAP) is a hereditary condition. People with MAP tend to develop multiple adenomatous colon polyps during their lifetime and will have an increased risk of colorectal cancer if they are not monitored closely with regular colonoscopies.

What is MUTYH heterozygous?

Monoallelic (heterozygous) MUTYH mutations, inherited from only one parent, occur in 1–2% of the Caucasian population and are associated with a moderately increased risk of CRC (Win et al., 2016).

What type of gene is MUTYH?

MUTYH is a gene that normally helps repair damaged DNA. It’s sometimes also referred to as MYH. If you inherit mutations, or changes, in this gene, it won’t function like it should. Everyone has two copies of the MUTYH gene, one that they acquire from each of their parents.

What does MUTYH stand for?

MUTYH (mutY DNA glycosylase) is a human gene that encodes a DNA glycosylase, MUTYH glycosylase. It is involved in oxidative DNA damage repair and is part of the base excision repair pathway.

What chromosome is MUTYH on?

MUTYH-associated polyposis (MAP) (OMIM no. 608456; http://www.ncbi.nlm.nih.gov/omim/) is an autosomal recessive colorectal polyposis syndrome caused by mutations of the base excision repair gene MUTYH. MUTYH is located on chromosome 1p34.

What is Monoallelic mutation of MUTYH gene?

Germline mutations in a single allele of MUTYH (monoallelic mutation) are associated with a small increase of 1.15-fold in CRC risk compared to noncarriers,7 and a twofold increased risk for carriers who have a family history of CRC.

Where is the MUTYH gene located?

Chr. Chromosome 1

MUTYH
Aliases MUTYH, MYH, mutY DNA glycosylase, mutY homolog (E. coli)
External IDs OMIM: 604933 MGI: 1917853 HomoloGene: 8156 GeneCards: MUTYH
Gene location (Human) Chr. Chromosome 1 (human) Band 1p34.1 Start 45,329,163 bp End 45,340,893 bp

What does Monoallelic mutation mean?

Gene expression is termed “monoallelic” when only one of the two copies of a gene is active, while the other is silent. Monoallelic expression is frequently initiated early in the development of an organism and stably maintained thereafter.

  • October 1, 2022