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Sökning: (WFRF:(Batra A)) pers:(Koutros S) > (2020) > The CHEK2 Variant C...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05406naa a2201057 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:145198310 | |
| 003 | SwePub | |
| 008 | 240902s2020 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:uu-427548 | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1451983102 URI |
| 024 | 7 | a https://doi.org/10.3390/cancers121132542 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4275482 URI |
| 040 | a (SwePub)kid (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Brandao, A4 aut |
| 245 | 1 0 | a The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor |
| 264 | c 2020-11-04 | |
| 264 | 1 | b MDPI AG,c 2020 |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 653 | a CHEK2 | |
| 700 | 1 | a Paulo, P4 aut |
| 700 | 1 | a Maia, S4 aut |
| 700 | 1 | a Pinheiro, M4 aut |
| 700 | 1 | a Peixoto, A4 aut |
| 700 | 1 | a Cardoso, M4 aut |
| 700 | 1 | a Silva, MP4 aut |
| 700 | 1 | a Santos, C4 aut |
| 700 | 1 | a Eeles, RA4 aut |
| 700 | 1 | a Kote-Jarai, Z4 aut |
| 700 | 1 | a Muir, K4 aut |
| 700 | 1 | a Schleutker, J4 aut |
| 700 | 1 | a Wang, Y4 aut |
| 700 | 1 | a Pashayan, N4 aut |
| 700 | 1 | a Batra, J4 aut |
| 700 | 1 | a Gronberg, Hu Karolinska Institutet4 aut |
| 700 | 1 | a Neal, DE4 aut |
| 700 | 1 | a Nordestgaard, BG4 aut |
| 700 | 1 | a Tangen, CM4 aut |
| 700 | 1 | a Southey, MC4 aut |
| 700 | 1 | a Wolk, Alicjau Uppsala universitet,Karolinska Institutet,Ortopedi,Unit of Cardiovascular and Nutritional Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, SE-171 77 Stockholm, Sweden4 aut0 (Swepub:uu)alwol516 |
| 700 | 1 | a Albanes, D4 aut |
| 700 | 1 | a Haiman, CA4 aut |
| 700 | 1 | a Travis, RC4 aut |
| 700 | 1 | a Stanford, JL4 aut |
| 700 | 1 | a Mucci, LA4 aut |
| 700 | 1 | a West, CML4 aut |
| 700 | 1 | a Nielsen, SF4 aut |
| 700 | 1 | a Kibel, AS4 aut |
| 700 | 1 | a Cussenot, O4 aut |
| 700 | 1 | a Berndt, SI4 aut |
| 700 | 1 | a Koutros, S4 aut |
| 700 | 1 | a Sorensen, KD4 aut |
| 700 | 1 | a Cybulski, C4 aut |
| 700 | 1 | a Grindedal, EM4 aut |
| 700 | 1 | a Park, JY4 aut |
| 700 | 1 | a Ingles, SA4 aut |
| 700 | 1 | a Maier, C4 aut |
| 700 | 1 | a Hamilton, RJ4 aut |
| 700 | 1 | a Rosenstein, BS4 aut |
| 700 | 1 | a Vega, A4 aut |
| 700 | 1 | a Kogevinas, M4 aut |
| 700 | 1 | a Wiklund, Fu Karolinska Institutet4 aut |
| 700 | 1 | a Penney, KL4 aut |
| 700 | 1 | a Brenner, H4 aut |
| 700 | 1 | a John, EM4 aut |
| 700 | 1 | a Kaneva, R4 aut |
| 700 | 1 | a Logothetis, CJ4 aut |
| 700 | 1 | a Neuhausen, SL4 aut |
| 700 | 1 | a De Ruyck, K4 aut |
| 700 | 1 | a Razack, A4 aut |
| 700 | 1 | a Newcomb, LF4 aut |
| 700 | 1 | a Lessel, D4 aut |
| 700 | 1 | a Usmani, N4 aut |
| 700 | 1 | a Claessens, F4 aut |
| 700 | 1 | a Gago-Dominguez, M4 aut |
| 700 | 1 | a Townsend, PA4 aut |
| 700 | 1 | a Roobol, MJ4 aut |
| 700 | 1 | a Teixeira, MR4 aut |
| 710 | 2 | a Karolinska Institutetb Ortopedi4 org |
| 773 | 0 | t Cancersd : MDPI AGg 12:11q 12:11x 2072-6694 |
| 856 | 4 | u https://www.mdpi.com/2072-6694/12/11/3254/pdf |
| 856 | 4 | u https://doi.org/10.3390/cancers12113254y Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1507901/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:145198310 |
| 856 | 4 8 | u https://doi.org/10.3390/cancers12113254 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427548 |
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