{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T04:30:31Z","timestamp":1748579431341},"reference-count":72,"publisher":"SMW Supporting Association","issue":"3","license":[{"start":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T00:00:00Z","timestamp":1680134400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Swiss Med Wkly"],"abstract":"<jats:p>BACKGROUND: Carriers of germline pathogenic variants of the\u00a0BRCA1\u00a0gene (gBRCA1) tend to have a higher incidence of haematological toxicity upon exposure to chemotherapy. We hypothesised that the occurrence of agranulocytosis during the first cycle of (neo-)adjuvant chemotherapy (C1) in breast cancer (BC) patients could predict\u00a0gBRCA1\u00a0pathogenic variants.&#x0D;\nPATIENTS AND METHODS: The study population included non-metastatic BC patients selected for genetic counselling at H\u00f4pitaux Universitaires de Gen\u00e8ve (Jan. 1998 to Dec. 2017) with available mid-cycle blood counts performed during C1. The BOADICEA and Manchester scoring system risk-prediction models were applied. The primary outcome was the predicted likelihood of harbouring\u00a0gBRCA1\u00a0pathogenic variants among patients presenting agranulocytosis during C1.&#x0D;\nRESULTS: Three hundred seven BC patients were included: 32 (10.4%)\u00a0gBRCA1, 27 (8.8%)\u00a0gBRCA2, and 248 (81.1%) non-heterozygotes. Mean age at diagnosis was 40 years. Compared with non-heterozygotes,\u00a0gBRCA1\u00a0heterozygotes more frequently had grade 3 BC (78.1%; p = 0.014), triple-negative subtype (68.8%; p &lt;0.001), bilateral BC (25%; p = 0.004), and agranulocytosis following the first cycle of (neo-)adjuvant chemotherapy (45.8%; p = 0.002). Agranulocytosis and febrile neutropenia that developed following the first cycle of chemotherapy were independently predictive for\u00a0gBRCA1\u00a0pathogenic variants (odds ratio: 6.1; p = 0.002). The sensitivity, specificity, positive predictive value, and negative predictive value for agranulocytosis predicting\u00a0gBRCA1\u00a0were 45.8% (25.6\u201367.2%), 82.8% (77.5\u201387.3%), 22.9% (6.1\u201337.3%), and 93.4% (88.9\u201396.4%), respectively. Agranulocytosis substantially improved the positive predictive value of the risk-prediction models used for\u00a0gBRCA1\u00a0evaluation.&#x0D;\nCONCLUSION: Agranulocytosis following the first cycle of (neo-)adjuvant chemotherapy is an independent predictive factor for gBRCA1\u00a0detection in non-metastatic BC patients.<\/jats:p>","DOI":"10.57187\/smw.2023.40055","type":"journal-article","created":{"date-parts":[[2023,3,31]],"date-time":"2023-03-31T19:50:42Z","timestamp":1680292242000},"page":"40055","source":"Crossref","is-referenced-by-count":1,"title":["Chemotherapy-related agranulocytosis as a predictive factor for germline BRCA1 pathogenic variants in breast cancer patients: a retrospective cohort study"],"prefix":"10.57187","volume":"153","author":[{"given":"No\u00e9mie","family":"Lang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aur\u00e9lie","family":"Ayme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang","family":"Ming","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2011Damien","family":"Combes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor N.","family":"Chappuis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Friedlaender","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aur\u00e9lie","family":"Vuilleumier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 L.","family":"Sandoval","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Viassolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre O.","family":"Chappuis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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