نتایج جستجو برای: ژن pms2
تعداد نتایج: 16271 فیلتر نتایج به سال:
Immunoglobulin (Ig) class switch recombination (CSR) deficiencies are rare primary immunodeficiencies characterized by the lack of switched isotype (IgG/IgA/IgE) production. In some cases, CSR deficiencies can be associated with abnormal somatic hypermutation. Analysis of CSR deficiencies has helped reveal the key functions of CSR-triggering molecules, i.e., CD40L, CD40, and effector molecules ...
Breast cancer (BC) is not a typical manifestation of Lynch syndrome. The existence and extent excessive breast risk in carriers pathogenic mutations the syndrome-associated genes (MLH1, MSH2, MSH6, PMS2) remains an open question. In addition, it known that some neoplasms patients with this syndrome are causally linked to hereditary mutation, arise completely independently defect gene DNA mismat...
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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