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Page 1
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. 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.
Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations.
Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet JS, Stickeler E, Kieback DG, Kreienberg R, Weber B, Narod SA, Runnebaum IB. Wang-Gohrke S, et al. Br J Cancer. 1999 Sep;81(1):179-83. doi: 10.1038/sj.bjc.6690669. Br J Cancer. 1999. PMID: 10487631 Free PMC article.
Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives.
Runnebaum IB, Wang-Gohrke S, Vesprini D, Kreienberg R, Lynch H, Moslehi R, Ghadirian P, Weber B, Godwin AK, Risch H, Garber J, Lerman C, Olopade OI, Foulkes WD, Karlan B, Warner E, Rosen B, Rebbeck T, Tonin P, Dubé MP, Kieback DG, Narod SA. Runnebaum IB, et al. Pharmacogenetics. 2001 Oct;11(7):635-8. doi: 10.1097/00008571-200110000-00010. Pharmacogenetics. 2001. PMID: 11668223
Consortium analysis of 7 candidate SNPs for ovarian cancer.
Ramus SJ, Vierkant RA, Johnatty SE, Pike MC, Van Den Berg DJ, Wu AH, Pearce CL, Menon U, Gentry-Maharaj A, Gayther SA, DiCioccio RA, McGuire V, Whittemore AS, Song H, Easton DF, Pharoah PDP, Garcia-Closas M, Chanock S, Lissowska J, Brinton L, Terry KL, Cramer DW, Tworoger SS, Hankinson SE, Berchuck A, Moorman PG, Schildkraut JM, Cunningham JM, Liebow M, Kjaer SK, Hogdall E, Hogdall C, Blaakaer J, Ness RB, Moysich KB, Edwards RP, Carney ME, Lurie G, Goodman MT, Wang-Gohrke S, Kropp S, Chang-Claude J, Webb PM, Chen X, Beesley J, Chenevix-Trench G, Goode EL. Ramus SJ, et al. Int J Cancer. 2008 Jul 15;123(2):380-388. doi: 10.1002/ijc.23448. Int J Cancer. 2008. PMID: 18431743 Free PMC article.
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics.
Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson DA, Bojesen SE, Nordestgaard BG, Axelsson CK, Arias JI, Milne RL, Ribas G, González-Neira A, Benítez J, Zamora P, Brauch H, Justenhoven C, Hamann U, Ko YD, Bruening T, Haas S, Dörk T, Schürmann P, Hillemanns P, Bogdanova N, Bremer M, Karstens JH, Fagerholm R, Aaltonen K, Aittomäki K, von Smitten K, Blomqvist C, Mannermaa A, Uusitupa M, Eskelinen M, Tengström M, Kosma VM, Kataja V, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X; Australian Ovarian Cancer Management Group; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Devilee P, van Asperen CJ, Jacobi CE, Tollenaar RA, Huijts PE, Klijn JG, Chang-Claude J, Kropp S, Slanger T, Flesch-Janys D, Mutschelknauss E, Salazar R, Wang-Gohrke S, Couch F, Goode EL, Olson JE, Vachon C, Fredericksen ZS, Giles GG, Baglietto L, Severi G, Hopper JL, English DR, Southey MC, Haiman CA, Henderson BE, Kolonel LN, Le Marchand L, Stram DO, Hunter DJ, Hankinson SE, Cox DG, Tamimi R, Kraft P, Sherman ME, Chanock SJ, Lissowska J, Brinton LA, Peplonska B, Klijn JG, Hooning MJ, Meijers-Heijboer H, Collee JM, van den Ouweland A, Uitterlinden AG, Liu J, L… See abstract for full author list ➔ Garcia-Closas M, et al. PLoS Genet. 2008 Apr 25;4(4):e1000054. doi: 10.1371/journal.pgen.1000054. PLoS Genet. 2008. PMID: 18437204 Free PMC article.
Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
Palmieri RT, Wilson MA, Iversen ES, Clyde MA, Calingaert B, Moorman PG, Poole C, Anderson AR, Anderson S, Anton-Culver H, Beesley J, Hogdall E, Brewster W, Carney ME, Chen X, Chenevix-Trench G, Chang-Claude J, Cunningham JM, Dicioccio RA, Doherty JA, Easton DF, Edlund CK, Gayther SA, Gentry-Maharaj A, Goode EL, Goodman MT, Kjaer SK, Hogdall CK, Hopkins MP, Jenison EL, Blaakaer J, Lurie G, McGuire V, Menon U, Moysich KB, Ness RB, Pearce CL, Pharoah PD, Pike MC, Ramus SJ, Rossing MA, Song H, Terada KY, Vandenberg D, Vierkant RA, Wang-Gohrke S, Webb PM, Whittemore AS, Wu AH, Ziogas A, Berchuck A, Schildkraut JM; Ovarian Cancer Association Consortium; Australian Cancer Study (Ovarian Cancer Group); Australian Ovarian Cancer Study Group. Palmieri RT, et al. Cancer Epidemiol Biomarkers Prev. 2008 Dec;17(12):3567-72. doi: 10.1158/1055-9965.EPI-08-0548. Cancer Epidemiol Biomarkers Prev. 2008. PMID: 19064572 Free PMC article.
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.
Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Stratton MR, Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver WR, Bojesen S, Nordestgaard BG, Flyger H, Dörk T, Schürmann P, Hillemanns P, Karstens JH, Bogdanova NV, Antonenkova NN, Zalutsky IV, Bermisheva M, Fedorova S, Khusnutdinova E; SEARCH; Kang D, Yoo KY, Noh DY, Ahn SH, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Garcia-Closas M, Lissowska J, Brinton L, Peplonska B, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Hopper JL, Southey MC, Smith L, Spurdle AB, Schmidt MK, Broeks A, van Hien RR, Cornelissen S, Milne RL, Ribas G, González-Neira A, Benitez J, Schmutzler RK, Burwinkel B, Bartram CR, Meindl A, Brauch H, Justenhoven C, Hamann U; GENICA Consortium; Chang-Claude J, Hein R, Wang-Gohrke S, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kataja V, Olson JE, Wang X, Fredericksen Z, Giles GG, Severi G, Baglietto L, English DR, Hankinson SE, Cox DG, Kraft P, Vatten LJ, Hveem K, Kumle M,… See abstract for full author list ➔ Ahmed S, et al. Nat Genet. 2009 May;41(5):585-90. doi: 10.1038/ng.354. Epub 2009 Mar 29. Nat Genet. 2009. PMID: 19330027 Free PMC article.
Role of genetic polymorphisms and ovarian cancer susceptibility.
Fasching PA, Gayther S, Pearce L, Schildkraut JM, Goode E, Thiel F, Chenevix-Trench G, Chang-Claude J, Wang-Gohrke S, Ramus S, Pharoah P, Berchuck A; OCAC (Ovarian Cancer Association Consortium). Fasching PA, et al. Mol Oncol. 2009 Apr;3(2):171-81. doi: 10.1016/j.molonc.2009.01.008. Epub 2009 Feb 4. Mol Oncol. 2009. PMID: 19383379 Free PMC article. Review.
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
Milne RL, Benítez J, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Arias JI, Zamora MP, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schürmann P, Bremer M, Hillemanns P, Dörk T, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Liu J, Li Y, Ahmed S, Dunning AM, Maranian M, Pharoah PD, Chenevix-Trench G, Beesley J; kConFab Investigators; AOCS Group; Bogdanova NV, Antonenkova NN, Zalutsky IV, Anton-Culver H, Ziogas A, Brauch H, Justenhoven C, Ko YD, Haas S, Fasching PA, Strick R, Ekici AB, Beckmann MW, Giles GG, Severi G, Baglietto L, English DR, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Turnbull C, Hines S, Renwick A, Rahman N, Nordestgaard BG, Bojesen SE, Flyger H, Kang D, Yoo KY, Noh DY, Mannermaa A, Kataja V, Kosma VM, García-Closas M, Chanock S, Lissowska J, Brinton LA, Chang-Claude J, Wang-Gohrke S, Shen CY, Wang HC, Yu JC, Chen ST, Bermisheva M, Nikolaeva T, Khusnutdinova E, Humphreys MK, Morrison J, Platte R, Easton DF; Breast Cancer Association Consortium. Milne RL, et al. J Natl Cancer Inst. 2009 Jul 15;101(14):1012-8. doi: 10.1093/jnci/djp167. Epub 2009 Jun 30. J Natl Cancer Inst. 2009. PMID: 19567422 Free PMC article.
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