The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor

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Fältnamn	Indikatorer	Metadata
000		05900naa a2201105 4500
001		oai:DiVA.org:uu-427548
003		SwePub
008		201209s2020 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:145198310
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4275482 URI
024	7	a https://doi.org/10.3390/cancers121132542 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1451983102 URI
040		a (SwePub)uud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Brandão, Andreia4 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
338		a electronic2 rdacarrier
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
653		a cancer predisposition
653		a founder variant
653		a prostate cancer
700	1	a Paulo, Paula4 aut
700	1	a Maia, Sofia4 aut
700	1	a Pinheiro, Manuela4 aut
700	1	a Peixoto, Ana4 aut
700	1	a Cardoso, Marta4 aut
700	1	a Silva, Maria P.4 aut
700	1	a Santos, Catarina4 aut
700	1	a Eeles, Rosalind A.4 aut
700	1	a Kote-Jarai, Zsofia4 aut
700	1	a Muir, Kenneth4 aut
700	1	a Schleutker, Johanna4 aut
700	1	a Wang, Ying4 aut
700	1	a Pashayan, Nora4 aut
700	1	a Batra, Jyotsna4 aut
700	1	a Grönberg, Henriku Karolinska Institutet4 aut
700	1	a Neal, David E.4 aut
700	1	a Nordestgaard, Børge G.4 aut
700	1	a Tangen, Catherine M.4 aut
700	1	a Southey, Melissa C.4 aut
700	1	a Wolk, Alicjau Karolinska Institutet,Uppsala universitet,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, Demetrius4 aut
700	1	a Haiman, Christopher A.4 aut
700	1	a Travis, Ruth C.4 aut
700	1	a Stanford, Janet L.4 aut
700	1	a Mucci, Lorelei A.4 aut
700	1	a West, Catharine M. L.4 aut
700	1	a Nielsen, Sune F.4 aut
700	1	a Kibel, Adam S.4 aut
700	1	a Cussenot, Olivier4 aut
700	1	a Berndt, Sonja I.4 aut
700	1	a Koutros, Stella4 aut
700	1	a Dalsgaard Sørensen, Karina4 aut
700	1	a Cybulski, Cezary4 aut
700	1	a Grindedal, Eli Marie4 aut
700	1	a Park, Jong Y.4 aut
700	1	a Ingles, Sue A.4 aut
700	1	a Maier, Christiane4 aut
700	1	a Hamilton, Robert J.4 aut
700	1	a Rosenstein, Barry S.4 aut
700	1	a Vega, Ana4 aut
700	1	a Kogevinas, Manolis4 aut
700	1	a Wiklund, Fredriku Karolinska Institutet4 aut
700	1	a Penney, Kathryn L.4 aut
700	1	a Brenner, Hermann4 aut
700	1	a John, Esther M.4 aut
700	1	a Kaneva, Radka4 aut
700	1	a Logothetis, Christopher J.4 aut
700	1	a Neuhausen, Susan L.4 aut
700	1	a De Ruyck, Kim4 aut
700	1	a Razack, Azad4 aut
700	1	a Newcomb, Lisa F.4 aut
700	1	a Lessel, Davor4 aut
700	1	a Usmani, Nawaid4 aut
700	1	a Claessens, Frank4 aut
700	1	a Gago-Dominguez, Manuela4 aut
700	1	a Townsend, Paul A.4 aut
700	1	a Roobol, Monique J.4 aut
700	1	a Teixeira, Manuel R.4 aut
710	2	a Karolinska Institutetb Ortopedi4 org
773	0	t Cancersd : MDPI AGg 12:11q 12:11x 2072-6694
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	u https://www.mdpi.com/2072-6694/12/11/3254/pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427548
856	4 8	u https://doi.org/10.3390/cancers12113254
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:145198310

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By the author/editor: Brandão, Andreia; Paulo, Paula; Maia, Sofia; Pinheiro, Manuel ...; Peixoto, Ana; Cardoso, Marta; show more...; Silva, Maria P.; Santos, Catarina; Eeles, Rosalind ...; Kote-Jarai, Zsof ...; Muir, Kenneth; Schleutker, Joha ...; Wang, Ying; Pashayan, Nora; Batra, Jyotsna; Grönberg, Henrik; Neal, David E.; Nordestgaard, Bø ...; Tangen, Catherin ...; Southey, Melissa ...; Wolk, Alicja; Albanes, Demetri ...; Haiman, Christop ...; Travis, Ruth C.; Stanford, Janet ...; Mucci, Lorelei A ...; West, Catharine ...; Nielsen, Sune F.; Kibel, Adam S.; Cussenot, Olivie ...; Berndt, Sonja I.; Koutros, Stella; Dalsgaard Sørens ...; Cybulski, Cezary; Grindedal, Eli M ...; Park, Jong Y.; Ingles, Sue A.; Maier, Christian ...; Hamilton, Robert ...; Rosenstein, Barr ...; Vega, Ana; Kogevinas, Manol ...; Wiklund, Fredrik; Penney, Kathryn ...; Brenner, Hermann; John, Esther M.; Kaneva, Radka; Logothetis, Chri ...; Neuhausen, Susan ...; De Ruyck, Kim; Razack, Azad; Newcomb, Lisa F.; Lessel, Davor; Usmani, Nawaid; Claessens, Frank; Gago-Dominguez, ...; Townsend, Paul A ...; Roobol, Monique ...; Teixeira, Manuel ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

Articles in the publication: Cancers

By the university: Uppsala University; Karolinska Institutet

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