BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma (pages 332–338)
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
Article first published 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.