publication date: Feb. 22, 2019

Clinical Roundup

Guidelines recommend genetic testing for all people with breast cancer

The American Society of Breast Surgeons published new guidelines recommending that all people diagnosed with breast cancer undergo genetic testing with a multi-gene panel.

These new ASBrS guidelines are based on research recently published by the Targeted Medical Education Breast Care Network in the Journal of Clinical Oncology.

The study demonstrated patients who met existing National Comprehensive Cancer Network clinical testing criteria had similar rates of pathogenic/likely pathogenic hereditary mutations in breast cancer genes (9 percent) as patients who did not meet NCCN criteria (8 percent).

According to the American Cancer Society, 330,000 people are diagnosed with breast cancer annually in the United States, and an estimated 10 percent of these are caused by inherited mutations.  Fewer than 10 percent of BRCA1/2 carriers have been identified, and up to 80 percent of individuals at risk have not received genetic testing because they do not meet family history criteria of current testing guidelines. 

NCI estimates that 35,000 patients with breast cancer have pathogenic BRCA1/2 mutations, but only 30 percent have been identified. Additionally, an estimated 10 to 15 percent of women who test negative for BRCA1/2 mutations have pathogenic variants in other cancer susceptibility genes including: ATM, CDH1, CHEK2, NBN, NF1, PALB2, TP53, STK11 and PTEN.


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