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The CHEK2 Variant C...
The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor
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Brandão, Andreia (author)
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Paulo, Paula (author)
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Maia, Sofia (author)
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show more...
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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, Henrik (author)
- Karolinska Institutet
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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, Alicja (author)
- Karolinska Institutet,Uppsala universitet,Ortopedi,Unit of Cardiovascular and Nutritional Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, SE-171 77 Stockholm, Sweden
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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, Fredrik (author)
- Karolinska Institutet
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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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(creator_code:org_t)
- 2020-11-04
- 2020
- English.
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In: Cancers. - : MDPI AG. - 2072-6694. ; 12:11
- Related links:
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https://doi.org/10.3...
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https://uu.diva-port... (primary) (Raw object)
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https://www.mdpi.com...
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https://urn.kb.se/re...
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https://doi.org/10.3...
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http://kipublication...
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Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- CHEK2
- cancer predisposition
- founder variant
- prostate cancer
Publication and Content Type
- ref (subject category)
- art (subject category)
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Cancers
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To the university's database
- By the author/editor
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Brandão, Andreia
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Paulo, Paula
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Maia, Sofia
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Pinheiro, Manuel ...
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Peixoto, Ana
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Cardoso, Marta
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show more...
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Silva, Maria P.
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Santos, Catarina
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Eeles, Rosalind ...
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Kote-Jarai, Zsof ...
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Muir, Kenneth
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Schleutker, Joha ...
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Wang, Ying
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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.
-
Kibel, Adam S.
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Cussenot, Olivie ...
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Berndt, Sonja I.
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Koutros, Stella
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Dalsgaard Sørens ...
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Cybulski, Cezary
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Grindedal, Eli M ...
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Park, Jong Y.
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Ingles, Sue A.
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Maier, Christian ...
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Hamilton, Robert ...
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Rosenstein, Barr ...
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Vega, Ana
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Kogevinas, Manol ...
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Wiklund, Fredrik
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Penney, Kathryn ...
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Brenner, Hermann
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John, Esther M.
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Kaneva, Radka
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Logothetis, Chri ...
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Neuhausen, Susan ...
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De Ruyck, Kim
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Razack, Azad
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Newcomb, Lisa F.
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Lessel, Davor
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Usmani, Nawaid
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Claessens, Frank
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Gago-Dominguez, ...
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Townsend, Paul A ...
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Roobol, Monique ...
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Teixeira, Manuel ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Cancers
- By the university
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Uppsala University
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Karolinska Institutet