Fast Five Quiz: Advanced and Metastatic Breast Cancer Myths

Pavani Chalasani, MD, MPH; Stefania Morganti, MD


April 20, 2023

NCCN guidelines for genetic/familial high-risk assessment (breast, ovarian, pancreatic — version 2.2023) recommend that personal history of breast cancer should be taken into account:

  • In all individuals younger than 50 years

  • At any age:

    • When considering genetic testing to aid in systemic treatment decisions

    • For male patients

    • For patients with lobular tumors and personal/family history of gastric cancer

    • For individuals of Ashkenazi Jewish ancestry

Two recent large breast cancer case-control studies identified eight genes significantly associated with breast cancer risk: BRCA1, BRCA2, PALB2, ARD1, RAD51C, RAD51D, ATM, and CHEK2. The first study identified protein-truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 as being associated with a significant risk for breast cancer. More moderate associations were observed with BARD1, RAD51C, RAD51D, PTEN, NF1, TP53, and MSH6. Variants in BARD1, RAD51C, and RAD51D were more frequently associated with triple-negative breast cancer. Pathogenic variants in ATM, CDH1, and CHEK2 were associated with increased risk of developing ER-positive breast cancer.

Similarly, in the second study, variants in ATM and CHEK2 were associated with increased risk for ER-positive disease.

Learn more about the development of breast cancer.


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