%0 Journal Article
%A Brandão, Andreia
%A Paulo, Paula
%A Maia, Sofia
%A Pinheiro, Manuela
%A Peixoto, Ana
%A Cardoso, Marta
%A Silva, Maria P
%A Santos, Catarina
%A Eeles, Rosalind A
%A Kote-Jarai, Zsofia
%A Muir, Kenneth
%A Ukgpcs Collaborators
%A Schleutker, Johanna
%A Wang, Ying
%A Pashayan, Nora
%A Batra, Jyotsna
%A Apcb BioResource
%A Grönberg, Henrik
%A Neal, David E
%A Nordestgaard, Børge G
%A Tangen, Catherine M
%A Southey, Melissa C
%A Wolk, Alicja
%A Albanes, Demetrius
%A Haiman, Christopher A
%A Travis, Ruth C
%A Stanford, Janet L
%A Mucci, Lorelei A
%A West, Catharine M L
%A Nielsen, Sune F
%A Kibel, Adam S
%A Cussenot, Olivier
%A Berndt, Sonja I
%A Koutros, Stella
%A Sørensen, Karina Dalsgaard
%A Cybulski, Cezary
%A Grindedal, Eli Marie
%A Park, Jong Y
%A Ingles, Sue A
%A Maier, Christiane
%A Hamilton, Robert J
%A Rosenstein, Barry S
%A Vega, Ana
%A The Impact Study Steering Committee And Collaborators
%A Kogevinas, Manolis
%A Wiklund, Fredrik
%A Penney, Kathryn L
%A Brenner, Hermann
%A John, Esther M
%A Kaneva, Radka
%A Logothetis, Christopher J
%A Neuhausen, Susan L
%A Ruyck, Kim De
%A Razack, Azad
%A Newcomb, Lisa F
%A Canary Pass Investigators
%A Lessel, Davor
%A Usmani, Nawaid
%A Claessens, Frank
%A Gago-Dominguez, Manuela
%A Townsend, Paul A
%A Roobol, Monique J
%A The Profile Study Steering Committee
%A The Practical Consortium
%A Teixeira, Manuel R
%T The CHEK2 Variant C.349A</td><td width="150">
%T gt;G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor.
%J Cancers
%V 12
%N 11
%@ 2072-6694
%C Basel
%I MDPI
%M DKFZ-2020-02405
%P 3254
%D 2020
%X The identification of recurrent founder variants in cancer predisposing genes may have important implications for implementing cost-effective targeted genetic screening strategies. In this study, we evaluated the prevalence and relative risk of the CHEK2 recurrent variant c.349A>G in a series of 462 Portuguese patients with early-onset and/or familial/hereditary prostate cancer (PrCa), as well as in the large multicentre PRACTICAL case-control study comprising 55,162 prostate cancer cases and 36,147 controls. Additionally, we investigated the potential shared ancestry of the carriers by performing identity-by-descent, haplotype and age estimation analyses using high-density SNP data from 70 variant carriers belonging to 11 different populations included in the PRACTICAL consortium. The CHEK2 missense variant c.349A>G was found significantly associated with an increased risk for PrCa (OR 1.9; 95
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:33158149
%R 10.3390/cancers12113254
%U https://inrepo02.dkfz.de/record/165825