Lynch syndrome is classified by a mutation in the MMR gene. HNPCC is defined by family history and individuals must meet specific criteria, which are: 1.At least three relatives have colorectal or other HNPCC-related cancers, with one person being a first-degree relative (parent, child, or s...
If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. Results We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6) resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745...
The Folliculin Mutation Database: An Online Database of Mutations Associated with Birt-Hogg-Dubé Syndrome The folliculin gene ( FLCN ), also known as BHD , is the only known susceptibility gene for Birt-Hogg-Dub茅 syndrome. BHDS is the autosomal dominant predis... MH Wei,PW Blake,J Shevch...
Results: The cost-effectiveness of genetic testing was compared in first-degree relatives of known mutation carriers who have a 50% risk of carrying the ... N Breheny,E Geelhoed,J Goldblatt,... - 《Community Genetics》 被引量: 42发表: 2006年 Use of gene tests to detect hereditary predis...
Background The molecular diagnosis of hereditary non-polyposis colorectal cancer ( HNPCC ) or Lynch-Syndrome is the detection of a pathogenic germline mutation in one of the DNA mismatch repair (MMR) genes. However, in ~10-20% of cases suspected of Lynch-syndrome no disease-causing mechanism ...
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer Nature., 368 (6468) (1994), pp. 258-261 Google Scholar 10 S. Bulow, et al. The history of familial adenomatous polyposis Fam Cancer, 5 (3) (2006), pp. 213-220 Google Scho...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook AcronymDefinition HNPCCHereditary non-polyposis colon cancer HNPCCHereditary Non-polyposis Colon Cancer Syndrome(genetics) HNPCCHereditary Non-Polypotic Colorectal Cancer ...
The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of...
Investigation on the Mutation of MYOC Gene in Two Family Pedigrees with Primary Open-Angle Glaucoma in Shanxi; 陕西省两个原发性开角型青光眼家系MYOC基因突变的研究 2. Collection and hereditary research of pedigrees of microtia; 先天性小耳畸形家系收集和遗传学研究 3. Pedigree Survey and Clinic ...
Immunohistochemical analysis can help to pinpoint the affected gene. The detection of a mutation in one of the responsible mismatch repair gene confirmed the diagnosis HNPCC. Here we demonstrate our experience of some important pitfalls that will be discussed in this study. In MSI testing, one ...