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Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Wei, Wenqian Liu, Fangqi Li, Zuofeng Zhang, Xiaoyan Jiang, Fan Zhou, Xiaoyan Sheng, Wei-Qi Cai, Sanjun Li, Xuan Nan, Peng |
| Copyright Year | 2011 |
| Abstract | Hereditary non-polyposis Colorectal Cancer (HNPCC) is an autosomal dominant inheritance syndrome. HNPCC is the most common hereditary variant of colorectal cancer (CRC), which accounts for 2-5% CRCs, mainly due to hMLH1 and hMSH2 mutations that impair DNA repair functions. Our study aimed to identify the patterns of hMSH2 and hMLH1 mutations in Chinese HNPCC patients. Ninety-eight unrelated families from China meeting Amsterdam or Bethesda criteria were included in our study. Germline mutations in MLH1 and MSH2 genes, located in the exons and the splice-site junctions, were screened in the 98 probands by direct sequencing. Eleven mutations were found in ten patients (11%), with six in MLH1 (54.5%) and five in MSH2 (45.5%) genes. One patient had mutations in both MLH1 and MSH2 genes. Three novel mutations in MLH1 gene (c.157_160delGAGG, c.2157dupT and c.-64G>T) were found for the first time, and one suspected hotspot in MSH2 (c.1168C>T) was revealed. |
| File Format | PDF HTM / HTML |
| DOI | 10.5483/BMBRep.2011.44.5.317 |
| PubMed reference number | 21615986 |
| Journal | Medline |
| Volume Number | 44 |
| Issue Number | 5 |
| Journal | BMB reports |
| Alternate Webpage(s) | http://ocean.kisti.re.kr/downfile/volume/ksbmb/E1MBB7/2011/v44n5/E1MBB7_2011_v44n5_317.pdf |
| Alternate Webpage(s) | https://doi.org/10.5483/BMBRep.2011.44.5.317 |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
