Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?

The current cancer testing gene panels tend to be comprehensive rather than site-specific. <i>BARD1</i> is one of the genes commonly included in the multi-cancer testing panels. Mutations in <i>BARD1</i> confer an increase in the risk for breast cancer, but it is not studied...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>BARD1</i> mutation prostate cancer risk survival Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/063a51c8536a46f9942376b50bd0383a
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spelling	oai:doaj.org-article:063a51c8536a46f9942376b50bd0383a2021-11-11T15:33:32ZDo BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?10.3390/cancers132154642072-6694https://doaj.org/article/063a51c8536a46f9942376b50bd0383a2021-10-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/21/5464https://doaj.org/toc/2072-6694The current cancer testing gene panels tend to be comprehensive rather than site-specific. <i>BARD1</i> is one of the genes commonly included in the multi-cancer testing panels. Mutations in <i>BARD1</i> 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 <i>BARD1</i> mutations also predispose to prostate cancer, we screened <i>BARD1</i> 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 <i>BARD1</i> variants, including p.Q564X, p.R658C and p.R659=. Neither variant conferred elevated risk of prostate cancer (ORs between 0.84 and 1.15, <i>p</i>-values between 0.57 and 0.93) nor did they influence prostate cancer characteristics or survival. We conclude that men with a <i>BARD1</i> 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 <i>BARD1</i> mutation. However, a female relative of a man with a <i>BARD1</i> mutation may benefit from this information and be tested for the mutation, because <i>BARD1</i> is a breast cancer susceptibility gene.Klaudia StempaDominika WokołorczykWojciech KluźniakEmilia Rogoża-JaniszewskaKarolina MalińskaHelena RudnickaTomasz HuzarskiJacek GronwaldKatarzyna GliniewiczTadeusz DębniakAnna JakubowskaMarcin LenerJoanna Tomiczek-SzwiecPaweł DomagałaMalwina SuszynskaPiotr KozlowskiTomasz KluzMariusz NaczkJan LubińskiSteven A. NarodMohammad R. AkbariCezary Cybulskion behalf of the Polish Hereditary Prostate Cancer ConsortiumMDPI AGarticle<i>BARD1</i>mutationprostate cancerrisksurvivalNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5464, p 5464 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>BARD1</i> mutation prostate cancer risk survival Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	<i>BARD1</i> mutation prostate cancer risk survival Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 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 Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
description	The current cancer testing gene panels tend to be comprehensive rather than site-specific. <i>BARD1</i> is one of the genes commonly included in the multi-cancer testing panels. Mutations in <i>BARD1</i> 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 <i>BARD1</i> mutations also predispose to prostate cancer, we screened <i>BARD1</i> 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 <i>BARD1</i> variants, including p.Q564X, p.R658C and p.R659=. Neither variant conferred elevated risk of prostate cancer (ORs between 0.84 and 1.15, <i>p</i>-values between 0.57 and 0.93) nor did they influence prostate cancer characteristics or survival. We conclude that men with a <i>BARD1</i> 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 <i>BARD1</i> mutation. However, a female relative of a man with a <i>BARD1</i> mutation may benefit from this information and be tested for the mutation, because <i>BARD1</i> is a breast cancer susceptibility gene.
format	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
author_facet	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
author_sort	Klaudia Stempa
title	Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
title_short	Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
title_full	Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
title_fullStr	Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
title_full_unstemmed	Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
title_sort	do bard1 mutations confer an elevated risk of prostate cancer?
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/063a51c8536a46f9942376b50bd0383a
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Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?

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