Recently Identified Colon Cancer Predispositions: MYH and MSH6 Mutations
نویسندگان
چکیده
منابع مشابه
Germ-line msh6 mutations in colorectal cancer families.
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is due primarily to inherited mutations in two mismatch repair genes, MSH2 and MLH1, whereas germ-line mutations in other mismatch repair genes are rare. We examined the frequency of germ-line msh6 mutations in a population-based series of 140 colorectal cancer patients, including 45 sporadic cases, 91 familial non-HNPCC cases, and 4 HNPCC ca...
متن کاملMutYH (MYH) and colorectal cancer.
MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous polyposis coli and K-ras genes, reflectin...
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BACKGROUND Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) that are associated with risk of colorectal cancer. Prior research has evaluated the presence of gene-environment interaction involving the first 10 identified susceptibility loci, but little work has been conducted on interaction involving SNPs at recently identified susceptibility loci, i...
متن کاملGenetic predispositions and childhood cancer.
This article provides an overview of the problem of genetic susceptibility to childhood cancer with a particular emphasis on problems with ascertaining inherited cancer risk and the role of tumor-suppressor gene mutations in cancer predispositions. The association between neurofibromatosis type 1 and childhood leukemia is used to illustrate some of the issues faced by molecular biologists and g...
متن کاملAssociation between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk.
The MutY human homologue (MYH) gene encodes a member of the base excision repair pathway that is involved in repairing oxidative damage to DNA. Two germline MYH gene mutations that result in Myh proteins containing amino acid substitutions Y165C and G382D (hereafter called the Y165C and G382D mutations) are associated with adenomatous poly-posis and colorectal cancer among patients from several...
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ژورنال
عنوان ژورنال: Seminars in Oncology
سال: 2007
ISSN: 0093-7754
DOI: 10.1053/j.seminoncol.2007.07.005