Search: (WFRF:(West Catharine M. L.)) pers:(Vega Ana) >
The CHEK2 Variant C...
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Brandão, Andreia
(author)
The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor
- Article/chapterEnglish2020
Publisher, publication year, extent ...
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2020-11-04
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MDPI AG,2020
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-427548
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427548URI
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https://doi.org/10.3390/cancers12113254DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:145198310URI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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% CI: 1.1-3.2). A shared haplotype flanking the variant in all carriers was identified, strongly suggesting a common founder of European origin. Additionally, using two independent statistical algorithms, implemented by DMLE+2.3 and ESTIAGE, we were able to estimate the age of the variant between 2300 and 3125 years. By extending the haplotype analysis to 14 additional carrier families, a shared core haplotype was revealed among all carriers matching the conserved region previously identified in the high-density SNP analysis. These findings are consistent with CHEK2 c.349A>G being a founder variant associated with increased PrCa risk, suggesting its potential usefulness for cost-effective targeted genetic screening in PrCa families.
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Paulo, Paula
(author)
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Maia, Sofia
(author)
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Pinheiro, Manuela
(author)
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Peixoto, Ana
(author)
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Cardoso, Marta
(author)
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Silva, Maria P.
(author)
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Santos, Catarina
(author)
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Eeles, Rosalind A.
(author)
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Kote-Jarai, Zsofia
(author)
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Muir, Kenneth
(author)
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Schleutker, Johanna
(author)
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Wang, Ying
(author)
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Pashayan, Nora
(author)
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Batra, Jyotsna
(author)
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Grönberg, HenrikKarolinska Institutet
(author)
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Neal, David E.
(author)
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Nordestgaard, Børge G.
(author)
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Tangen, Catherine M.
(author)
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Southey, Melissa C.
(author)
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Wolk, AlicjaKarolinska Institutet,Uppsala universitet,Ortopedi,Unit of Cardiovascular and Nutritional Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, SE-171 77 Stockholm, Sweden(Swepub:uu)alwol516
(author)
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Albanes, Demetrius
(author)
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Haiman, Christopher A.
(author)
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Travis, Ruth C.
(author)
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Stanford, Janet L.
(author)
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Mucci, Lorelei A.
(author)
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West, Catharine M. L.
(author)
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Nielsen, Sune F.
(author)
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Kibel, Adam S.
(author)
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Cussenot, Olivier
(author)
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Berndt, Sonja I.
(author)
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Koutros, Stella
(author)
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Dalsgaard Sørensen, Karina
(author)
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Cybulski, Cezary
(author)
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Grindedal, Eli Marie
(author)
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Park, Jong Y.
(author)
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Ingles, Sue A.
(author)
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Maier, Christiane
(author)
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Hamilton, Robert J.
(author)
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Rosenstein, Barry S.
(author)
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Vega, Ana
(author)
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Kogevinas, Manolis
(author)
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Wiklund, FredrikKarolinska Institutet
(author)
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Penney, Kathryn L.
(author)
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Brenner, Hermann
(author)
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John, Esther M.
(author)
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Kaneva, Radka
(author)
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Logothetis, Christopher J.
(author)
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Neuhausen, Susan L.
(author)
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De Ruyck, Kim
(author)
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Razack, Azad
(author)
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Newcomb, Lisa F.
(author)
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Lessel, Davor
(author)
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Usmani, Nawaid
(author)
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Claessens, Frank
(author)
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Gago-Dominguez, Manuela
(author)
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Townsend, Paul A.
(author)
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Roobol, Monique J.
(author)
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Teixeira, Manuel R.
(author)
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Karolinska InstitutetOrtopedi
(creator_code:org_t)
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In:Cancers: MDPI AG12:112072-6694
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Brandão, Andreia
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Paulo, Paula
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Maia, Sofia
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Peixoto, Ana
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Cardoso, Marta
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Silva, Maria P.
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Pashayan, Nora
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Batra, Jyotsna
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Grönberg, Henrik
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Neal, David E.
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Nordestgaard, Bø ...
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Tangen, Catherin ...
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Southey, Melissa ...
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Wolk, Alicja
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Albanes, Demetri ...
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Haiman, Christop ...
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Travis, Ruth C.
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Stanford, Janet ...
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Mucci, Lorelei A ...
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West, Catharine ...
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Nielsen, Sune F.
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Kibel, Adam S.
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- MEDICAL AND HEALTH SCIENCES
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Cancers
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Uppsala University
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Karolinska Institutet