Dr. Churpek on Gene Mutations in Breast Cancer

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.

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