Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer

Author:

Rezoug Zoulikha123,Totten Stephanie P.4,Szlachtycz David15,Atayan Adrienne12,Mohler Kristen12,Albert Sophie12,Feng Leila12,Lemieux Anglin Brianna12,Shen Zhen1,Jimenez Daniel25,Hamel Nancy2,Meti Nicholas67,Esfahani Khashayar67,Boileau Jean-François168,Prakash Ipshita168,Basik Mark168,Meterissian Sarkis28,Tremblay Francine8,Fleiszer David8,Anderson Dawn78,Chong George45,Wong Stephanie M.168,Foulkes William D.12456

Affiliation:

1. Cancer Axis, Lady Davis Institute of the Jewish General Hospital, McGill University, Montréal, Québec, Canada

2. Cancer Research Program, Research Institute of the McGill University Health Centre, McGill University, Montréal, Québec, Canada

3. Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, Qatar

4. Department of Human Genetics, McGill University, Montreal, Quebec, Canada

5. Optilab-McGill University Health Centre, Montreal, Quebec, Canada

6. Gerald Bronfman Department of Oncology, McGill University, Montreal, Quebec, Canada

7. Department of Oncology, St Mary’s Hospital, McGill University, Montréal, Québec, Canada

8. Department of Surgery, McGill University, Montreal, Quebec, Canada

Abstract

ImportanceBetween 5% and 10% of breast cancer cases are associated with an inherited germline pathogenic or likely pathogenic variant (GPV) in a breast cancer susceptibility gene (BCSG), which could alter local and systemic therapy recommendations. Traditional genetic testing criteria misses a proportion of these cases.ObjectiveTo evaluate the prevalence and clinicopathological associations of GPVs in 2 groups of BCSGs among an ethnically diverse cohort of women with newly diagnosed breast cancer.Design, Setting, and ParticipantsThis cross-sectional study, conducted at 3 Montreal hospitals between September 2019 and April 2022, offered universal genetic counseling and testing to all women with a first diagnosis of invasive breast cancer. Women were offered an obligatory primary panel of BRCA1, BRCA2, and PALB2 (B1B2P2) and an optional secondary panel of 14 additional BCSGs. Eligible participants were women 18 years of age or older who received a diagnosis of a first primary invasive breast cancer not more than 6 months before the time of referral to the study. Data were analyzed from November 2023 to June 2024.ResultsOf 1017 referred patients, 805 were eligible and offered genetic counseling and testing, and 729 of those 805 (90.6%) consented to be tested. The median age at breast cancer diagnosis was 53 years (range, 23-91 years), and 65.4% were White and of European ancestry. Fifty-four GPVs were identified in 53 patients (7.3%), including 39 patients (5.3%) with B1B2P2 and 15 patients (2.1%) with 6 of the 14 secondary panel BCSGs (ATM, BARD1, BRIP1, CHEK2, RAD51D, and STK11). On multivariable analysis, clinical factors independently associated with B1B2P2-positive status included being younger than 40 years of age at diagnosis (odds ratio [OR], 6.83; 95% CI, 2.22-20.90), triple-negative breast cancer (OR, 3.19; 95% CI, 1.20-8.43), high grade disease (OR, 1.68; 95% CI, 1.05-2.70), and family history of ovarian cancer (OR, 9.75; 95% CI, 2.65-35.85). Of 39 B1B2P2-positive patients, 13 (33.3%) were eligible for poly(adenosine diphosphate–ribose) polymerase (PARP) inhibitors.Conclusions and RelevanceIn this cross-sectional universal genetic testing study of women with newly diagnosed invasive breast cancer, the prevalence of GPVs was 7.3%, with 5.3% of patients testing positive for B1B2P2. Among B1B2P2-women women, one-third were eligible for PARP inhibitors.

Publisher

American Medical Association (AMA)

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