Jane E. Churpek, MD, medical oncologist, hematologist, The University of Chicago, discusses a study that found the inherited mutations in breast cancer genes in African American breast cancer patients were revealed by targeted genomic capture and next-generation sequencing.
It is known, Churpek says, that ATM and CHEK2 are considered moderate penetrants breast cancer susceptibility genes and increase the lifetime risk of disease by two- to threefold. PTEN also has known risks for breast cancer, colon cancer, endometrial cancer, and thyroid cancer.
The panel on the study also found a woman with two bad copies of a CHEK2 mutation, which further increased her risk. In broad screenings, Churpek says that these unique situations can be identified and give more meaning to what is already known about specific gene mutations.
The most promising novel therapeutics in development for patients with breast cancer focus primarily on targeting activating mutations in combinations that are based on findings from next-generation sequencing.
Debu Tripathy, MD, co-leader, Women's Cancer Program, University of Southern California Norris Comprehensive Cancer Center, discusses using adjuvant bisphosphonates as a treatment option for patients with breast cancer.
Judy C. Boughey, MD, associate professor of surgery, director, Breast Surgical Oncology Training Program, Mayo Clinic, discusses surgical resection of the primary breast tumor in patients with stage IV breast cancer.