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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A, Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK, Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S, Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H, Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS, Blot W, Cai … See abstract for full author list ➔ Dunning AM, et al. Among authors: couch fj. Nat Genet. 2016 Apr;48(4):374-86. doi: 10.1038/ng.3521. Epub 2016 Feb 29. Nat Genet. 2016. PMID: 26928228 Free PMC article.
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.
Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B, Couch F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick MH, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King MC, Goldgar DE. Neuhausen SL, et al. Am J Hum Genet. 1996 Feb;58(2):271-80. Am J Hum Genet. 1996. PMID: 8571953 Free PMC article.
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. Tavtigian SV, et al. Nat Genet. 1996 Mar;12(3):333-7. doi: 10.1038/ng0396-333. Nat Genet. 1996. PMID: 8589730
BRCA2 germline mutations in male breast cancer cases and breast cancer families.
Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, Bogden B, Chen Q, Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S, Rommens J, Simard J, Garber J, Merajver S, Weber BL. Couch FJ, et al. Nat Genet. 1996 May;13(1):123-5. doi: 10.1038/ng0596-123. Nat Genet. 1996. PMID: 8673091
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families.
Tonin P, Weber B, Offit K, Couch F, Rebbeck TR, Neuhausen S, Godwin AK, Daly M, Wagner-Costalos J, Berman D, Grana G, Fox E, Kane MF, Kolodner RD, Krainer M, Haber DA, Struewing JP, Warner E, Rosen B, Lerman C, Peshkin B, Norton L, Serova O, Foulkes WD, Garber JE, et al. Tonin P, et al. Nat Med. 1996 Nov;2(11):1179-83. doi: 10.1038/nm1196-1179. Nat Med. 1996. PMID: 8898735 Review. No abstract available.
Polymorphisms in PTEN in breast cancer families.
Carroll BT, Couch FJ, Rebbeck TR, Weber BL. Carroll BT, et al. Among authors: couch fj. J Med Genet. 1999 Feb;36(2):94-6. J Med Genet. 1999. PMID: 10051004 Free PMC article.
636 results