학술논문
Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer
Document Type
article
Author
Alicja Łukomska; Janusz Menkiszak; Jacek Gronwald; Joanna Tomiczek-Szwiec; Marek Szwiec; Marek Jasiówka; Paweł Blecharz; Tomasz Kluz; Małgorzata Stawicka-Niełacna; Radosław Mądry; Katarzyna Białkowska; Karolina Prajzendanc; Wojciech Kluźniak; Cezary Cybulski; Tadeusz Dębniak; Tomasz Huzarski; Aleksandra Tołoczko-Grabarek; Tomasz Byrski; Piotr Baszuk; Steven A. Narod; Jan Lubiński; Anna Jakubowska
Source
Cancers, Vol 13, Iss 4, p 849 (2021)
Subject
Language
English
ISSN
2072-6694
Abstract
The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 genes with ovarian cancer risk among unselected patients in Poland. We genotyped 21 recurrent germline mutations in BRCA1 (9 mutations), BRCA2 (4 mutations), RAD51C (3 mutations), PALB2 (2 mutations), and CHEK2 (3 mutations) among 2270 Polish ovarian cancer patients and 1743 healthy controls, and assessed the odds ratios (OR) for developing ovarian cancer for each gene. Mutations were detected in 369 out of 2095 (17.6%) unselected ovarian cancer cases and 117 out of 1743 (6.7%) unaffected controls. The ovarian cancer risk was associated with mutations in BRCA1 (OR = 40.79, 95% CI: 18.67–114.78; p = 0.29 × 10−15), in BRCA2 (OR = 25.98; 95% CI: 1.55–434.8; p = 0.001), in RAD51C (OR = 6.28; 95% CI 1.77–39.9; p = 0.02), and in PALB2 (OR 3.34; 95% CI: 1.06–14.68; p = 0.06). There was no association found for CHEK2. We found that pathogenic mutations in BRCA1, BRCA2, RAD51C or PALB2 are responsible for 12.5% of unselected cases of ovarian cancer. We recommend that all women with ovarian cancer in Poland and first-degree female relatives should be tested for this panel of 18 mutations.