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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De Nicolo… See abstract for full author list ➔ Stolarova L, et al. Among authors: ngeow j. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
Lifetime cancer risks in individuals with germline PTEN mutations.
Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Tan MH, et al. Among authors: ngeow j. Clin Cancer Res. 2012 Jan 15;18(2):400-7. doi: 10.1158/1078-0432.CCR-11-2283. Clin Cancer Res. 2012. PMID: 22252256 Free PMC article.
Impact of subsidies on cancer genetic testing uptake in Singapore.
Li ST, Yuen J, Zhou K, Binte Ishak ND, Chen Y, Met-Domestici M, Chan SH, Tan YP, Allen JC Jr, Lim ST, Soo KC, Ngeow J. Li ST, et al. Among authors: ngeow j. J Med Genet. 2017 Apr;54(4):254-259. doi: 10.1136/jmedgenet-2016-104302. Epub 2016 Oct 25. J Med Genet. 2017. PMID: 28330940
Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas.
Chan SH, Lim WK, Ishak NDB, Li ST, Goh WL, Tan GS, Lim KH, Teo M, Young CNC, Malik S, Tan MH, Teh JYH, Chin FKC, Kesavan S, Selvarajan S, Tan P, Teh BT, Soo KC, Farid M, Quek R, Ngeow J. Chan SH, et al. Among authors: ngeow j. Sci Rep. 2017 Sep 6;7(1):10660. doi: 10.1038/s41598-017-10333-x. Sci Rep. 2017. PMID: 28878254 Free PMC article.
Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.
Chan SH, Lim WK, Michalski ST, Lim JQ, Ishak NDB, Met-Domestici M, Young CNC, Vikstrom K, Esplin ED, Fulbright J, Ang MK, Wee J, Sittampalam K, Farid M, Lincoln SE, Itahana K, Abdullah S, Teh BT, Ngeow J. Chan SH, et al. Among authors: ngeow j. NPJ Genom Med. 2016 Jun 1;1:16015. doi: 10.1038/npjgenmed.2016.15. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263814 Free PMC article.
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J… See abstract for full author list ➔ Rebbeck TR, et al. Among authors: ngeow j. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 Free PMC article.
192 results