ATM, CHEK2, and PTEN Genes in Breast Cancer

July 27, 2013
Jane E. Churpek, MD

Jane E. Churpek, MD, medical oncologist, hematologist, The University of Chicago, discusses the ATM, CHEK2, and PTEN genes in breast cancer.

Jane E. Churpek, MD, medical oncologist, hematologist, The University of Chicago, discusses the ATM, CHEK2, and PTEN genes in breast cancer.

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.

Clinical Pearls

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.

  • ATM and CHEK2 are 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