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.

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.

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

Videos

ATM, CHEK2, and PTEN Genes in Breast Cancer

Jane E. Churpek, MD, medical oncologist, hematologist, The University of Chicago, describes the BROCA genetic assay.

The BROCA assay uses new tools called targeted genomic capture and next-generation sequencing to analyze a panel of 42 genes. Of those 42 genes, 18 are breast cancer susceptibility genes, including BRCA 1 and BRCA 2.

Jane E. Churpek, MD, describes the BROCA genetic assay, uses targeted genomic capture and next-generation sequencing to analyze a panel of 42 genes.

Jane E. Churpek, MD | Authors

Articles

ATM, CHEK2, and PTEN Genes in Breast Cancer

Using the BROCA Genetic Assay to Treat Breast Cancer