Cancer risk management and family communication of genetic test results among women with inherited breast cancer genes.

Authors

null

Tuya Pal

Vanderbilt University Med Center, Nashville, TN

Tuya Pal , Anne Weidner , Ann Tezak , Kate Clouse , Deborah Cragun

Organizations

Vanderbilt University Med Center, Nashville, TN, Vanderbilt University Medical Center, Nashville, TN, Vanderbilt University, Nashville, TN, University of South Florida, Tampa, FL

Research Funding

U.S. National Institutes of Health
U.S. National Institutes of Health, Institutional Funding

Background: Identification of inherited breast cancer may guide care, with benefits amplified through family testing. Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management, family communication of genetic test results, and family testing. Comparisons were made across genes. Results: The 235 participants with P/LP variants (186 BRCA1/2, 28 PALB2, 15 CHEK2, and 6 ATM) had a median age of 54 and 61% had a prior breast cancer diagnosis. For women with P/LP variants in BRCA1/2, PALB2, and ATM/CHEK2, bilateral mastectomy rates were 79%, 61%, and 52%, respectively; and risk-reducing oophorectomy rates were 89%, 30%, and 37%, respectively. All women with PALB2 and ATM/CHEK2 P/LP variants with a bilateral mastectomy had a personal or family history of breast cancer; however, only 27% of those with a risk-reducing oophorectomy had a family history of ovarian cancer. Family communication of genetic test results and family testing rates were higher for those with P/LP variants in BRCA1/2 compared to others. Conclusions: Bilateral mastectomy and risk-reducing oophorectomy were relatively common among women with PALB2 and ATM/CHEK2 P/LP variants in our study, suggesting overtreatment through risk-reducing surgery. Furthermore, strategies to improve family communication of genetic test results and family testing are needed to amplify testing benefits.

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Abstract Details

Meeting

2020 ASCO Virtual Scientific Program

Session Type

Poster Session

Session Title

Cancer Prevention, Risk Reduction, and Genetics

Track

Prevention, Risk Reduction, and Genetics

Sub Track

Cancer Genetics

Citation

J Clin Oncol 38: 2020 (suppl; abstr 1532)

DOI

10.1200/JCO.2020.38.15_suppl.1532

Abstract #

1532

Poster Bd #

24

Abstract Disclosures