Oncology

Session # n/a

Associations between breast cancer subtypes and mutations in cancer predisposition genes identified by clinical genetic testing of breast cancer patients

Clinical genetic testing of individuals with a personal or family history of breast and ovarian cancer using panels for BRCA1/2 and other candidate cancer predisposition genes has become routine clinical practice. Several of the genes on hereditary cancer testing panels have been strongly associated with specific subtypes of breast cancer. In particular, individuals with germline mutations in BRCA1 predominantly develop estrogen receptor (ER)-negative and triple negative (TN) (estrogen receptor negative, progesterone receptor negative, HER2 negative) breast tumors. In contrast, CHEK2 and ATM mutations have been associated with ER-positive breast cancer. In this study, associations between mutations in panel genes and breast cancer subtypes were evaluated. A cohort of 50,000 breast cancer patients tested for germline cancer predisposing mutations using hereditary cancer gene panels was utilized. Information on personal and family cancer history, age of diagnosis, tumor pathology, and ethnicity of patients was obtained from test requisition forms or by follow up with ordering health care providers. Mutations in each gene were combined into four histological subtypes (triple negative; HER2 positive; ER-positive,HER2-positive; and ER-positive,HER2 negative).

  • Authors: Fergus J. Couch; Jenna Lilyquist; Jie Na; Chunling Hu; Eric C. Polley; Hermela Shimelis; M. Akinhanmi; Steven N. Hart; Robina Smith; Melissa Pronold; Robert Huether; Carin Espenschied; Shuwei Li; Tina Pesaran; Rachel McFarland; Holly LaDuca; David E. Goldgar; Jill Dolinsky
  • Collaborators: Mayo Clinic
  • Conference: SABCS 2016
  • Date: Friday, Jan 01, 2016 12:00pm - 12:31pm

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