## Abstract Many hereditary nonpolyposis colorectal cancers (CRCs) cannot be explained by Lynch syndrome. Other high penetrance genetic risk factors are likely to play a role in these mismatch repair (MMR)βproficient CRC families. Because genomic profiles of CRC tend to vary with CRC susceptibility
The Frequency of Hereditary Defective Mismatch Repair in a Prospective Series of Unselected Colorectal Carcinomas
β Scribed by Julie M. Cunningham; Cheong-Yong Kim; Eric R. Christensen; David J. Tester; Yann Parc; Lawrence J. Burgart; Kevin C. Halling; Shannon K. McDonnell; Daniel J. Schaid; Catherine Walsh Vockley; Vickie Kubly; Heidi Nelson; Virginia V. Michels; Stephen N. Thibodeau
- Book ID
- 117853709
- Publisher
- American Society of Human Genetics
- Year
- 2001
- Tongue
- English
- Weight
- 428 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/323658
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## 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
Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLH1, and GTBP, by using a combination of different methods that included an in vitro synthesized protein assay, single-stran