The National Comprehensive Cancer Network guidelines for genetic/familial high-risk assessment recommend that a family history of either invasive cancer or ductal carcinoma should be taken into account when considering genetic testing. A recent study showed that the 10-year cumulative risk at age 50 years for women who had a relative with breast carcinoma in situ was 3.5%; this was not significantly different from the 3.7% risk among women of the same age who had a relative with invasive breast cancer.
Two recent large breast cancer case-control studies identified eight genes that had significant associations 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. Specifically, BRCA1 and BRCA2 were linked with high risk, whereas PALB2 variants were linked with more moderate risk. Variants in BARD1, RAD51C, and RAD51D were associated with moderate risk for ER-negative breast cancer and triple-negative breast cancer. Pathogenic variants in ATM, CDH1, and CHEK2 were associated with increased risk for ER-positive breast cancer.
Similarly, in the second study, variants in ATM and CHEK2 were associated with increased risk for ER-positive disease. However, in this study, variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, and RAD51D had higher odds ratios for ER-negative disease.
Medscape © 2021 WebMD, LLC
Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: Pavani Chalasani. Fast Five Quiz: Breast Cancer Myths - Medscape - Apr 20, 2021.