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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 ...

  • 2020-11-04
  • MDPI AG,2020
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-427548
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427548URI
  • https://doi.org/10.3390/cancers12113254DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:145198310URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Paulo, Paula (author)
  • Maia, Sofia (author)
  • Pinheiro, Manuela (author)
  • Peixoto, Ana (author)
  • Cardoso, Marta (author)
  • Silva, Maria P. (author)
  • Santos, Catarina (author)
  • Eeles, Rosalind A. (author)
  • Kote-Jarai, Zsofia (author)
  • Muir, Kenneth (author)
  • Schleutker, Johanna (author)
  • Wang, Ying (author)
  • Pashayan, Nora (author)
  • Batra, Jyotsna (author)
  • Grönberg, HenrikKarolinska Institutet (author)
  • Neal, David E. (author)
  • Nordestgaard, Børge G. (author)
  • Tangen, Catherine M. (author)
  • Southey, Melissa C. (author)
  • 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)
  • Albanes, Demetrius (author)
  • Haiman, Christopher A. (author)
  • Travis, Ruth C. (author)
  • Stanford, Janet L. (author)
  • Mucci, Lorelei A. (author)
  • West, Catharine M. L. (author)
  • Nielsen, Sune F. (author)
  • Kibel, Adam S. (author)
  • Cussenot, Olivier (author)
  • Berndt, Sonja I. (author)
  • Koutros, Stella (author)
  • Dalsgaard Sørensen, Karina (author)
  • Cybulski, Cezary (author)
  • Grindedal, Eli Marie (author)
  • Park, Jong Y. (author)
  • Ingles, Sue A. (author)
  • Maier, Christiane (author)
  • Hamilton, Robert J. (author)
  • Rosenstein, Barry S. (author)
  • Vega, Ana (author)
  • Kogevinas, Manolis (author)
  • Wiklund, FredrikKarolinska Institutet (author)
  • Penney, Kathryn L. (author)
  • Brenner, Hermann (author)
  • John, Esther M. (author)
  • Kaneva, Radka (author)
  • Logothetis, Christopher J. (author)
  • Neuhausen, Susan L. (author)
  • De Ruyck, Kim (author)
  • Razack, Azad (author)
  • Newcomb, Lisa F. (author)
  • Lessel, Davor (author)
  • Usmani, Nawaid (author)
  • Claessens, Frank (author)
  • Gago-Dominguez, Manuela (author)
  • Townsend, Paul A. (author)
  • Roobol, Monique J. (author)
  • Teixeira, Manuel R. (author)
  • Karolinska InstitutetOrtopedi (creator_code:org_t)

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  • In:Cancers: MDPI AG12:112072-6694

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