{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:56:02Z","timestamp":1790934962305,"version":"4.1.0"},"reference-count":38,"publisher":"American Medical Association (AMA)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Netw Open"],"abstract":"\n Importance<\/jats:title>\n Between 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.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To 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.<\/jats:p>\n <\/jats:sec>\n \n Design, Setting, and Participants<\/jats:title>\n \n This 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\n BRCA1<\/jats:italic>\n ,\n BRCA2<\/jats:italic>\n , and\n PALB2<\/jats:italic>\n (\n B1B2P2<\/jats:italic>\n ) 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.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Of 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\n B1B2P2<\/jats:italic>\n and 15 patients (2.1%) with 6 of the 14 secondary panel BCSGs (\n ATM<\/jats:italic>\n ,\n BARD1<\/jats:italic>\n ,\n BRIP1<\/jats:italic>\n ,\n CHEK2<\/jats:italic>\n ,\n RAD51D<\/jats:italic>\n , and\n STK11<\/jats:italic>\n ). On multivariable analysis, clinical factors independently associated with\n B1B2P2<\/jats:italic>\n -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\n B1B2P2<\/jats:italic>\n -positive patients, 13 (33.3%) were eligible for poly(adenosine diphosphate\u2013ribose) polymerase (PARP) inhibitors.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions and Relevance<\/jats:title>\n \n In 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\n B1B2P2<\/jats:italic>\n . Among\n B1B2P2<\/jats:italic>\n -women women, one-third were eligible for PARP inhibitors.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1001\/jamanetworkopen.2024.31427","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T11:01:02Z","timestamp":1725361262000},"page":"e2431427","source":"Crossref","is-referenced-by-count":29,"title":["Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer"],"prefix":"10.1001","volume":"7","author":[{"given":"Zoulikha","family":"Rezoug","sequence":"first","affiliation":[{"name":"Cancer Axis, Lady Davis Institute of the Jewish General Hospital, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"},{"name":"Cancer Research Program, Research Institute of the McGill University Health Centre, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"},{"name":"Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, 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Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Mohler","sequence":"additional","affiliation":[{"name":"Cancer Axis, Lady Davis Institute of the Jewish General Hospital, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"},{"name":"Cancer Research Program, Research Institute of the McGill University Health Centre, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Albert","sequence":"additional","affiliation":[{"name":"Cancer Axis, Lady Davis Institute of the Jewish General Hospital, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"},{"name":"Cancer Research Program, Research Institute of the McGill University Health Centre, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Feng","sequence":"additional","affiliation":[{"name":"Cancer Axis, Lady Davis Institute of the 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McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"},{"name":"Gerald Bronfman Department of Oncology, McGill University, Montreal, Quebec, Canada"},{"name":"Department of Surgery, McGill University, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Basik","sequence":"additional","affiliation":[{"name":"Cancer Axis, Lady Davis Institute of the Jewish General Hospital, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"},{"name":"Gerald Bronfman Department of Oncology, McGill University, Montreal, Quebec, Canada"},{"name":"Department of Surgery, McGill University, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarkis","family":"Meterissian","sequence":"additional","affiliation":[{"name":"Cancer Research Program, Research Institute of the McGill University Health Centre, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"},{"name":"Department of Surgery, McGill University, Montreal, 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