Background & Aims: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers. Methods: Mutation analysis was performed in 20...
Background & Aims: Hereditary nonpolyposis colorectal carcinoma(HNPCC) is caused by a mutated mismatch repair(MMR) gene. The aim of our study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers. Methods: Mutation analysis was performed in 20 fam...
Testing younger women with endometrial cancer for mutations in a certain gene might help identify families at risk for inherited cancers, according to a study led by Washington University School of Medicine in St. Louis. "The findings suggest that more women than previously thought carry mutations ...
An association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually. We conducted a retrospective review of personal and family histor
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer Background Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer i...
chrepairedgeneMSH6inpersonswithdiffe rentkindsofcolorectalcancer.MethodsT hepapersaboutMSH6mutationswerereview ed,informationwasderivedfromstudiespu blishedbetween1997and2005,anddatawer eanalyzedbystatisticalmethods.Result sMSH6mutationfrequenciesinallcolorec talcancerpatients,HNPCC,suspectedHNPC 2 Candsporadic...
Cancer risk associated with germline DNA mismatch repair gene mutations [J]. Hum Mol Genet, 1997,6(1):105 110. [4] Millar AL, Pal T, Madlensky L, et al. Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium [J]. Hum...
We conclude that MSH6 mutations, like those in some other members of the family of mismatch repair genes, lead to cancer susceptibility, and germline mutations in this gene may be associated with a cancer predisposition syndrome that does not show microsatellite instability. 展开 ...
MMR GeneMismatch RepairCorrelationPolypectomyLynch syndrome is the most common inherited cause of colorectal cancer (CRC). Contemporary and mutation-specific estimates of CRC-risk in patients undergoing colonoscopy would optimize surveillance strategies. We performed a prospective national cohort study, using...
The DNA mismatch repair MSH2/MSH6 heterodimer is responsible for the detection of DNA damage, and may promote apoptosis in normal cells, thus protecting mammals from ultraviolet-induced malignant transformation and hence the prevention of skin cancer. ...