1031 High Frequency of MSH6 Germline Mutations in Early-Onset Colorectal Cancer
โ Scribed by Maria Dolores Giraldez; Francesc Balaguer; Miriam Cuatrecasas; Jenifer Munoz; Virginia Alonso-Espinaco; Luis Bujanda; Mikel Larzabal; Victoria Gonzalo; Teresa Ocana; Leticia Moreira; Ajay Goel; Sergi Castellvi-Bel; Antoni Castells
- Book ID
- 119431539
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 99 KB
- Volume
- 138
- Category
- Article
- ISSN
- 0016-5085
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๐ SIMILAR VOLUMES
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
Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes. Identification of MMR gene mutations can have direct clinical implications in counseling and management of HNPCC fam