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Kathryn P. Pennington, Tom Walsh, Ming Lee, Christopher Pennil, Akiva P. Novetsky, Kathy J. Agnew, Anne Thornton, Rochelle Garcia, David Mutch, Mary-Claire King, Paul Goodfellow and Elizabeth M. Swisher BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma Cancer 119

Version of Record online: 18 JUL 2012 | DOI: 10.1002/cncr.27720

This study reports comprehensive germline assessment of 30 tumor suppressor genes, including BRCA1 (breast cancer 1, early onset), BRCA2, DNA mismatch repair genes, TP53 (tumor protein p53), and Fanconi anemia-BRCA pathway genes in a large series of uterine serous carcinoma. Approximately 5% of subjects had loss-of-function mutations in 3 different genes, which has implications for defining risk of other cancers and risk to family members.

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