نتایج جستجو برای: pms2
تعداد نتایج: 505 فیلتر نتایج به سال:
This is an autosomal dominant highly penetrant cancer-susceptibility syndrome causedby germline mutations inone oftheDNAmismatch repair genes, MLH1, MSH2, MSH6, PMS2 and PMS 1. Affected individuals have apredispositionto developing early onset colorectal cancer and endometrial cancer, and less commonly ovarian, small intestine, stomach, biliary tract, pancreatic, brain and uroepithelial tract c...
Lynch syndrome caused by constitutional mismatch‑repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2. After 20 years of genetic counseling and genetic testing for Lynch syndrome, we have compiled th...
Somatic hypermutation of Ig genes is probably dependent on transcription of the target gene via a mutator factor associated with the RNA polymerase (Storb, U., E.L. Klotz, J. Hackett, Jr., K. Kage, G. Bozek, and T.E. Martin. 1998. J. Exp. Med. 188:689-698). It is also probable that some form of DNA repair is involved in the mutation process. It was shown that the nucleotide excision repair prot...
OBJECTIVE Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance. DESIGN We undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting MLH1, MSH2, MSH6 or PMS2....
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