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114 results

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Page 1
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24. Genet Med. 2020. PMID: 31337882 Free PMC article.
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, Le Marchand L, Goode EL, Lindor NM, Thibodeau SN. DeRycke MS, et al. Mol Genet Genomic Med. 2017 Jul 23;5(5):553-569. doi: 10.1002/mgg3.317. eCollection 2017 Sep. Mol Genet Genomic Med. 2017. PMID: 28944238 Free PMC article.
PMS2 monoallelic mutation carriers: the known unknown.
Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM. Goodenberger ML, et al. Genet Med. 2016 Jan;18(1):13-9. doi: 10.1038/gim.2015.27. Epub 2015 Apr 9. Genet Med. 2016. PMID: 25856668 Free PMC article. Review.
Cancer Risks for PMS2-Associated Lynch Syndrome.
Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capella G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile R, Hampel HL, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Møller P, Newcomb PA, van Os TAM, Pearlman R, Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott R, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK. Ten Broeke SW, et al. J Clin Oncol. 2018 Oct 10;36(29):2961-2968. doi: 10.1200/JCO.2018.78.4777. Epub 2018 Aug 30. J Clin Oncol. 2018. PMID: 30161022 Free PMC article.
Lynch syndrome and cervical cancer.
Antill YC, Dowty JG, Win AK, Thompson T, Walsh MD, Cummings MC, Gallinger S, Lindor NM, Le Marchand L, Hopper JL, Newcomb PA, Haile RW, Church J, Tucker KM, Buchanan DD, Young JP, Winship IM, Jenkins MA. Antill YC, et al. Int J Cancer. 2015 Dec 1;137(11):2757-61. doi: 10.1002/ijc.29641. Epub 2015 Jul 14. Int J Cancer. 2015. PMID: 26077226 Free PMC article.
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.
Win AK, Jenkins MA, Dowty JG, Antoniou AC, Lee A, Giles GG, Buchanan DD, Clendenning M, Rosty C, Ahnen DJ, Thibodeau SN, Casey G, Gallinger S, Le Marchand L, Haile RW, Potter JD, Zheng Y, Lindor NM, Newcomb PA, Hopper JL, MacInnis RJ. Win AK, et al. Cancer Epidemiol Biomarkers Prev. 2017 Mar;26(3):404-412. doi: 10.1158/1055-9965.EPI-16-0693. Epub 2016 Oct 31. Cancer Epidemiol Biomarkers Prev. 2017. PMID: 27799157 Free PMC article.
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Ryan N, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Sampson JR, Evans DG, Seppälä TT, Møller P. Dominguez-Valentin M, et al. Genet Med. 2021 Apr;23(4):705-712. doi: 10.1038/s41436-020-01029-1. Epub 2020 Dec 1. Genet Med. 2021. PMID: 33257847 Free PMC article.
Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome.
Dashti SG, Chau R, Ouakrim DA, Buchanan DD, Clendenning M, Young JP, Winship IM, Arnold J, Ahnen DJ, Haile RW, Casey G, Gallinger S, Thibodeau SN, Lindor NM, Le Marchand L, Newcomb PA, Potter JD, Baron JA, Hopper JL, Jenkins MA, Win AK. Dashti SG, et al. JAMA. 2015 Jul 7;314(1):61-71. doi: 10.1001/jama.2015.6789. JAMA. 2015. PMID: 26151267 Free PMC article.
114 results