TY  - JOUR
AU  - Brandão, Andreia
AU  - Paulo, Paula
AU  - Maia, Sofia
AU  - Pinheiro, Manuela
AU  - Peixoto, Ana
AU  - Cardoso, Marta
AU  - Silva, Maria P
AU  - Santos, Catarina
AU  - Eeles, Rosalind A
AU  - Kote-Jarai, Zsofia
AU  - Muir, Kenneth
AU  - Ukgpcs Collaborators
AU  - Schleutker, Johanna
AU  - Wang, Ying
AU  - Pashayan, Nora
AU  - Batra, Jyotsna
AU  - Apcb BioResource
AU  - Grönberg, Henrik
AU  - Neal, David E
AU  - Nordestgaard, Børge G
AU  - Tangen, Catherine M
AU  - Southey, Melissa C
AU  - Wolk, Alicja
AU  - Albanes, Demetrius
AU  - Haiman, Christopher A
AU  - Travis, Ruth C
AU  - Stanford, Janet L
AU  - Mucci, Lorelei A
AU  - West, Catharine M L
AU  - Nielsen, Sune F
AU  - Kibel, Adam S
AU  - Cussenot, Olivier
AU  - Berndt, Sonja I
AU  - Koutros, Stella
AU  - Sørensen, Karina Dalsgaard
AU  - Cybulski, Cezary
AU  - Grindedal, Eli Marie
AU  - Park, Jong Y
AU  - Ingles, Sue A
AU  - Maier, Christiane
AU  - Hamilton, Robert J
AU  - Rosenstein, Barry S
AU  - Vega, Ana
AU  - The Impact Study Steering Committee And Collaborators
AU  - Kogevinas, Manolis
AU  - Wiklund, Fredrik
AU  - Penney, Kathryn L
AU  - Brenner, Hermann
AU  - John, Esther M
AU  - Kaneva, Radka
AU  - Logothetis, Christopher J
AU  - Neuhausen, Susan L
AU  - Ruyck, Kim De
AU  - Razack, Azad
AU  - Newcomb, Lisa F
AU  - Canary Pass Investigators
AU  - Lessel, Davor
AU  - Usmani, Nawaid
AU  - Claessens, Frank
AU  - Gago-Dominguez, Manuela
AU  - Townsend, Paul A
AU  - Roobol, Monique J
AU  - The Profile Study Steering Committee
AU  - The Practical Consortium
AU  - Teixeira, Manuel R
TI  - The CHEK2 Variant C.349A</td><td width="150">
TI  - gt;G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor.
JO  - Cancers
VL  - 12
IS  - 11
SN  - 2072-6694
CY  - Basel
PB  - MDPI
M1  - DKFZ-2020-02405
SP  - 3254
PY  - 2020
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:33158149
DO  - DOI:10.3390/cancers12113254
UR  - https://inrepo02.dkfz.de/record/165825
ER  -