6533b830fe1ef96bd12968d9

RESEARCH PRODUCT

Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer

Wojciech KluźniakAnna JakubowskaAnna JakubowskaMałgorzata Stawicka-niełacnaMarek JasiówkaRadosław MądryAleksandra Tołoczko-grabarekKarolina PrajzendancTomasz ByrskiMarek SzwiecAlicja ŁUkomskaJan LubinskiJacek GronwaldCezary CybulskiPaweł BlecharzTomasz KluzSteven A. NarodPiotr BaszukTadeusz DębniakJoanna Tomiczek-szwiecKatarzyna BiałkowskaJanusz MenkiszakTomasz HuzarskiTomasz Huzarski

subject

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyendocrine system diseasesovarian cancer; recurrent mutations; BRCA1; BRCA2; RAD51C; PALB2; CHEK2; cancer riskPALB2<i>CHEK2</i>cancer riskBrca1 brca2lcsh:RC254-282Article03 medical and health sciences0302 clinical medicineGermline mutationInternal medicinemedicineskin and connective tissue diseasesCHEK2GeneCHEK2RAD51Cbusiness.industryOdds ratiomedicine.diseaseBRCA1lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensBRCA2female genital diseases and pregnancy complications<i>BRCA1</i>030104 developmental biologyovarian cancerOncology030220 oncology & carcinogenesisPALB2recurrent mutationsRAD51C<i>PALB2</i>Ovarian cancerbusiness<i>RAD51C</i><i>BRCA2</i>

description

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

yearjournalcountryeditionlanguage
2021-02-01Cancers
10.3390/cancers13040849https://www.mdpi.com/2072-6694/13/4/849