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Page 1
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Li H, Engel C, Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE; ENIGMA Consortium and CIMBA Consortium. Li H, et al. Among authors: john em. Genet Med. 2022 Oct;24(10):2208. doi: 10.1016/j.gim.2022.08.005. Genet Med. 2022. PMID: 36205748 Free article. No abstract available.
Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations.
Milne RL, Knight JA, John EM, Dite GS, Balbuena R, Ziogas A, Andrulis IL, West DW, Li FP, Southey MC, Giles GG, McCredie MR, Hopper JL, Whittemore AS. Milne RL, et al. Among authors: john em. Cancer Epidemiol Biomarkers Prev. 2005 Feb;14(2):350-6. doi: 10.1158/1055-9965.EPI-04-0376. Cancer Epidemiol Biomarkers Prev. 2005. PMID: 15734957
The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Spurdle AB, Antoniou AC, Kelemen L, Holland H, Peock S, Cook MR, Smith PL, Greene MH, Simard J, Plourde M, Southey MC, Godwin AK, Beck J, Miron A, Daly MB, Santella RM, Hopper JL, John EM, Andrulis IL, Durocher F, Struewing JP, Easton DF, Chenevix-Trench G; Australian Breast Cancer Family Study; Australian Jewish Breast Cancer Study; Breast Cancer Family Registry; Interdisciplinary Health Research International Team on Breast Cancer Susceptibility; Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer; Epidemiological Study of Familial Breast Cancer Study Collaborators. Spurdle AB, et al. Among authors: john em. Cancer Epidemiol Biomarkers Prev. 2006 Jan;15(1):76-9. doi: 10.1158/1055-9965.EPI-05-0709. Cancer Epidemiol Biomarkers Prev. 2006. PMID: 16434590
No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years.
McGuire V, John EM, Felberg A, Haile RW, Boyd NF, Thomas DC, Jenkins MA, Milne RL, Daly MB, Ward J, Terry MB, Andrulis IL, Knight JA, Godwin AK, Giles GG, Southey M, West DW, Hopper JL, Whittemore AS; kConFab Investigators. McGuire V, et al. Among authors: john em. Cancer Epidemiol Biomarkers Prev. 2006 Aug;15(8):1565-7. doi: 10.1158/1055-9965.EPI-06-0323. Cancer Epidemiol Biomarkers Prev. 2006. PMID: 16896052 No abstract available.
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.
Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomäki K, Simard J, Spurdle AB; KConFab; Couch FJ, Pereira LH, Greene MH, Andrulis IL; Ontario Cancer Genetics Network; Pasche B, Kaklamani V; Breast Cancer Family Registry; Hamann U, Szabo C, Peock S, Cook M, Harrington PA, Donaldson A, Male AM, Gardiner CA, Gregory H, Side LE, Robinson AC, Emmerson L, Ellis I; EMBRACE; Peyrat JP, Fournier J, Vennin P, Adenis C, Muller D, Fricker JP, Longy M, Sinilnikova OM, Stoppa-Lyonnet D; GEMO; Schmutzler RK, Versmold B, Engel C, Meindl A, Kast K, Schaefer D, Froster UG, Chenevix-Trench G, Easton DF. Rebbeck TR, et al. Breast Cancer Res Treat. 2009 May;115(1):185-92. doi: 10.1007/s10549-008-0064-8. Epub 2008 Jun 4. Breast Cancer Res Treat. 2009. PMID: 18523885 Free PMC article.
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
Neuhausen SL, Ozcelik H, Southey MC, John EM, Godwin AK, Chung W, Iriondo-Perez J, Miron A, Santella RM, Whittemore A, Andrulis IL, Buys SS, Daly MB, Hopper JL, Seminara D, Senie RT, Terry MB; Breast Cancer Family Registry. Neuhausen SL, et al. Among authors: john em. Breast Cancer Res Treat. 2009 Jul;116(2):379-86. doi: 10.1007/s10549-008-0153-8. Epub 2008 Aug 14. Breast Cancer Res Treat. 2009. PMID: 18704680 Free PMC article.
Prediagnosis reproductive factors and all-cause mortality for women with breast cancer in the breast cancer family registry.
Phillips KA, Milne RL, West DW, Goodwin PJ, Giles GG, Chang ET, Figueiredo JC, Friedlander ML, Keegan TH, Glendon G, Apicella C, O'Malley FP, Southey MC, Andrulis IL, John EM, Hopper JL. Phillips KA, et al. Among authors: john em. Cancer Epidemiol Biomarkers Prev. 2009 Jun;18(6):1792-7. doi: 10.1158/1055-9965.EPI-08-1014. Cancer Epidemiol Biomarkers Prev. 2009. PMID: 19505912 Free PMC article.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN; Gerdes AM, Thomassen M, Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON; Peock S, Cook M, Frost D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Cole T, Hodgson S; EMBRACE; Godwin AK, Stoppa-Lyonnet D, Buecher B, Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N, Longy M, Ferrer SF, Prieur F; GEMO; Goldgar D, Miron A, John EM, Buys SS, Daly M… See abstract for full author list ➔ Antoniou AC, et al. Among authors: john em. Hum Mol Genet. 2009 Nov 15;18(22):4442-56. doi: 10.1093/hmg/ddp372. Epub 2009 Aug 5. Hum Mol Genet. 2009. PMID: 19656774 Free PMC article.
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G. Tavtigian SV, et al. Among authors: john em. Am J Hum Genet. 2009 Oct;85(4):427-46. doi: 10.1016/j.ajhg.2009.08.018. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781682 Free PMC article.
520 results