## Abstract A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, __MSH2__, __MLH1__, __MSH6__, and __PMS2__, identified 48 genomic rearrangements causat
Assay Validation for Identification of Hereditary Nonpolyposis Colon Cancer-Causing Mutations in Mismatch Repair Genes MLH1, MSH2, and MSH6
β Scribed by Hegde, Madhuri; Blazo, Maria; Chong, Belinda; Prior, Tom; Richards, Carolyn
- Book ID
- 122647242
- Publisher
- American Society for Investigative Pathology
- Year
- 2005
- Tongue
- English
- Weight
- 539 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1525-1578
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π SIMILAR VOLUMES
Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant disease caused by germline mutations in DNA mismatch repair genes. The mutational spectrum in these genes appears to be diverse, in both the distribution and the nature of the mutations. However, most described mutation
## Abstract Mutations in DNA repair genes have previously been identified as causative factors for hereditary nonpolyposis colon cancer (HNPCC). Recent evidence also supports an association between DNA sequence variation in these genes and sporadic colorectal carcinoma (CRC). Genetic investigation
## Abstract ## BACKGROUND Hereditary nonpolyposis colorectal carcinoma (HNPCC) significantly raises the risk of developing colorectal carcinoma (CRC) and other extracolonic tumors. It is defined by the Amsterdam Criteria and is associated with germline mutations in mismatch repair genes, primarily