Article
Association between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer: results from an international cohort study.
Annals of oncology : official journal of the European Society for Medical Oncology - 1 Mar 2026
Toss A, Blondeaux E, Tenedini E, Bonamici L, Graffeo R, Livraghi L, Villarreal-Garza C, Bernstein Molho R, Kwong A, Balmana J, Wildiers H, Agostinetto E, Phillips K A, Pogoda K, Renaud T, Rousset-Jablonski C, Ferrari A, Moore H C F, Peccatori F A, Paluch-Shimon S, Fruscio R, Micheri C, Wong S M, Cui W, Vernieri C, Lee M K, De Marchis L, Couch F J, Del Mastro L, Puglisi F, Meireles P A, Kemp Z, Matikas A, Plichta J, Del Pilar Estevez-Diz M, Di Meglio A, Cichowska-Cwalinska N, Gianni C, Yerushalmi R, Sanchez-Bayona R, Mrinakova B, Matos L, Bianchini G, Caleffi M, Krivokuca A, Abdou Y, Mariño-Mariño M, Parokonnaya A, Okano M, Antone N, Saavedra C, Sonnenblick A, Duchnowska R, Pais H L, Harbeck N, Cortesi L, Delucchi V, De Angelis C, Lambertini M
Abstract excerpt
BACKGROUND: The clinical implications of specific pathogenic and likely pathogenic variant (LP/PV) types and locations in the BRCA1 orBRCA2 tumor-suppressor genes remain to be elucidated. PATIENTS AND METHODS: The BRCA BCY Collaboration (NCT03673306) is an international, multicenter, hospital-based, retrospective cohort study that included BRCA carriers diagnosed with invasive breast cancer at the age of ≤40...
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