Prevalence study of BRCA1/2 mutations in Portuguese patients diagnosed with non-mucinous ovarian cancer, fallopian tube invasive neoplasia or peritoneal primary cancer (PADOC) (original) (raw)

Gynecologic Oncology, 2021

Abstract

Objectives: Family history is a representative risk factor for ovary cancer (OC), frequently associated with BRCA1/2 mutations. The primary objective was to determine the prevalence of BRCA1/2 mutations (somatic and germline) in patients with non-mucinous ovarian cancer (NMOC), invasive fallopian tube neoplasia (IFTN) or primary peritoneal carcinoma (PPC). Methods: National, interventional, retrospective and analytical study, with an estimated sample size of 261 women aged ≥18 years, diagnosed with NMOC, IFTN or PPC between 01/01/2014 and 31/12/2016 in the nine selected centers. Results: From 165 women eligible for analysis, the prevalence of BRCA1/2 mutation was 20% (24.2% somatic, 75.8% germline). For patients with a mutation, 54.5% had a mutation in BRCA1 (27.8% somatic, 72.2% germline), while 45.5% in BRCA2 (20.0% somatic, 80.0% germline). Mean age of the sample was 61.1 years (mutated 60.3 years, non-mutated 61.3 years For patients with a mutation, the ages of the subgroups wit...

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