Germline Mutations in the MYH Gene in Swedish Familial and Sporadic Colorectal Cancer
β Scribed by Zhou, X.-L.; Djureinovic, T.; Werelius, B.; Lindmark, G.; Sun, X.-F.; Lindblom, A.
- Book ID
- 121202682
- Publisher
- Mary Ann Liebert
- Year
- 2005
- Tongue
- English
- Weight
- 74 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1090-6576
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Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC
## Abstract It is estimated that up to 35% of colorectal cancers (CRC) can be explained by hereditary factors. However, genes predisposing to highly penetrant CRC syndromes account for only a small fraction of all cases. Thus, most CRCs still remain molecularly unexplained. A recent systematic sequ
Germline mutations in MSH6 can cause HNPCC, which is associated with a tumor phenotype featuring MSI. However, tumors arising in persons with disease-causing mutations of MSH6 may or may not exhibit MSI. We used D-HPLC to screen for germline mutations in the promoter region, the coding region and th