학술논문
Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
Document Type
article
Author
Klaudia Stempa; Dominika Wokołorczyk; Wojciech Kluźniak; Emilia Rogoża-Janiszewska; Karolina Malińska; Helena Rudnicka; Tomasz Huzarski; Jacek Gronwald; Katarzyna Gliniewicz; Tadeusz Dębniak; Anna Jakubowska; Marcin Lener; Joanna Tomiczek-Szwiec; Paweł Domagała; Malwina Suszynska; Piotr Kozlowski; Tomasz Kluz; Mariusz Naczk; Jan Lubiński; Steven A. Narod; Mohammad R. Akbari; Cezary Cybulski; on behalf of the Polish Hereditary Prostate Cancer Consortium
Source
Cancers, Vol 13, Iss 21, p 5464 (2021)
Subject
Language
English
ISSN
2072-6694
Abstract
The current cancer testing gene panels tend to be comprehensive rather than site-specific. BARD1 is one of the genes commonly included in the multi-cancer testing panels. Mutations in BARD1 confer an increase in the risk for breast cancer, but it is not studied whether or not they predispose to prostate cancer. To establish if BARD1 mutations also predispose to prostate cancer, we screened BARD1 in 390 Polish patients with hereditary prostate cancer. No truncating mutations were identified by sequencing. We also genotyped 5715 men with unselected prostate cancer, and 10,252 controls for three recurrent BARD1 variants, including p.Q564X, p.R658C and p.R659=. Neither variant conferred elevated risk of prostate cancer (ORs between 0.84 and 1.15, p-values between 0.57 and 0.93) nor did they influence prostate cancer characteristics or survival. We conclude that men with a BARD1 mutation are not at elevated prostate cancer risk. It is not justified to inform men about increased prostate cancer risk in case of identification of a BARD1 mutation. However, a female relative of a man with a BARD1 mutation may benefit from this information and be tested for the mutation, because BARD1 is a breast cancer susceptibility gene.