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
Familial endometrial cancer in female carriers of MSH6 germline mutations
✍ Scribed by Wijnen, Juul; Leeuw, Wiljo de; Vasen, Hans; Klift, Heleen van der; Møller, Pål; Stormorken, Astrid; Meijers-Heijboer, Hanne; Lindhout, Dick; Menko, Fred; Vossen, Sandra; Möslein, Gabriela; Tops, Carli; Bröcker-Vriends, Annette; Wu, Ying; Hofstra, Robert; Sijmons, Rolf; Cornelisse, Cees; Morreau, Hans; Fodde, Riccardo
- Book ID
- 109514681
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 171 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/13773
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📜 SIMILAR VOLUMES
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