Germline BRCA2 mutations in men with breast cancer

British Journal of Cancer

Volumn 76, Issue 11, 1997, Pages 1428-1431

  Mavraki, E ^a,b   Gray, I C ^b,c   Bishop, D T ^a   Spurr, N K ^c  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^c GLAXOSMITHKLINE   (United Kingdom)

Author keywords

BRCA2; Male breast cancer; Mutation

Indexed keywords

ARTICLE; BREAST CANCER; CANCER GENETICS; CLINICAL ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; ICELAND; MALE; MALE BREAST; MISSENSE MUTATION; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

EID: 0030825927     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1038/bjc.1997.574     Document Type: Article

References (27)

1. Berman DB, Costalas J, Schultz DC, Grana G, Daly M and Godwin AK (1996) A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res 56: 3409-3414
2. Claus EB, Risch N and Thompson WD (1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48: 232-242
3. Connor F, Smith A, Wooster R, Stratton M, Dixon A, Campbell E, Tait TM, Freeman T, Ashworth A (1997) Cloning, chromosomal mapping and expression pattern of the mouse BRCA2 gene. Hum Mol Genet 6: 291-300
4. 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 and Weber BL (1996) BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genet 13: 123-125
5. Haston DF, Bishop DT, Ford D and Crockford GP. The Breast Cancer Linkage Consortium. (1993) Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet 52: 678-701
6. Hoster KA, Harrington P, Ken J, Russell P, DiCioccio RA, Scott IV, Jacobs I, Chenevix-Trench G, Ponder BA and Gayther SA (1996) Somatic and germline mutations of the BRCA2 gene in sporadic ovarian cancer. Cancer Res 56: 3622-3625
7. Friedman LS, Gayther SA, Kurosaki T, Gordon D, Noble B, Casey G, Ponder BAJ, Anton-Culver H (1997) Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet 60: 313-319
8. Gayther SA, Mangion J, Russell P, Seal S, Barfoot R, Ponder BAJ, Stratton MR, Easton D (1997) Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nature Genet 15: 103-105
9. Goggins M, Schutte M, Lu J, Moskaluk CA, Weinstein CL, Petersen GM, Yeo CJ, Jackson CE, Lynch HT, Hruban RH and Kern SE (1996) Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 56: 5360-5364
10. Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, Gumbs C, Seal S, Barfoot R, Collins N, Bignell G, Patel S, Hamoudi R, LC. Wiseman RW, Berchuck A, Iglehart JD, Marks JR, Ashworth A, Stratton MR and Futreal PA (1996) BRCA2 mutations in primary breast and ovarian cancers. Nature Genet 13: 238-240
11. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barren JC, Lewis C, Neuhausen S, Cannon-Albright L, Golgar D, Wiseman R, Kamb A and Skolniek MH (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66-71
12. Miki Y, Katagiri T, Kasumi F, Yoshimoto T and Nakamura Y (1996) Mutation analysis in the BRCA2 gene in primary breast cancers. Nature Genet 13: 245-247
13. Neuhausen S, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, Hampel H, Borgen P, Brown K, Skolniek M, Shattuck-Eidens D, Jhanwar S, Goldgar D and Offit K (1996) Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nature Genet 13: 126-128
14. Phelan CM, Lancaster JM, Tonin P, Gumbs C, Cochran C, Carter R, Ghadirian P, Perret C, Moslehi R, Dion F, Faucher MC, Dole K, Karimi S, Foulkes W, Lounis H, Warner E, Goss P, Anderson D, Larsson C, Narod SA and Futreal PA (1996) Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nature Genet 13: 120-122
15. Ravnik-Glavac M, Glavac D and Dean M (1994) Sensitivity of single - strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Genet 3: 801-807
16. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW and Stone EM (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16: 325-332
17. Stratton MR, Ford D, Neuhasen S, Seal S, Wooster R, Friedman LS, King MC, Egilsson V, Devilee P, McManus R, Daly PA, Smyth E, Ponder BAJ, Peto J, Cannon-Albright L, Easton DF and Golgar DE (1994) Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nature Genet 7: 103-107
18. Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TR, Smith SA, Collins FS and Tucker MA (1995a) Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet 57: 1-7
19. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC (1995b) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet 11: 198-200
20. Takahashi H, Chiu HC, Bandera CA, Behbakht K, Liu PC, Couch FJ, Weber BL, LiVolsi VA, Furusato M, Rebane BA, Cardonick A, Benjamin I, Morgan MA, King SA, Mikuta JJ, Rubin SC and Boyd J (1996) Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Res 56: 2738-2741
21. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, T.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, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swensen J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AKC, Shizuya H, Eyfjord JE, Cannon-Albrighl L, Labrie F, Skolnick MH, Weber B, Kamb A and Golgar DE (1996) The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nature Genet 12: 333-337
22. Teng DH, Bogden R, Mitchell J, Baumgard M, Bell R, Berry S, Davis T, Ha PC, Kehrer R, Jammulapati S, Chen Q, Offit K, Skolnick MH, Tavtigian SV, Jhanwar S, Swedlund B, Wong AK and Kamb A (1996) Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nature Genet 13: 241-244
23. The Breast Cancer Information Core http://www.nhgri.nih.gov/Intramural_research/ Lab_transfer/Bic/
24. Thodacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM and Eyfjord JE (1996) A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genet 13: 117-119
25. Weber BH, Brohm M, Stec I, Backe J and Caffier H (1996) A somatic truncating mutation in BRCA2 in a sporadic breast tumor. Am J Hum Genet 59: 962-964
26. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R, Patel S, Rice C, Biggs P, Hashim Y, Smith A, Connor F, Arason A, Gudmundsson J, Ficenec D, Kelsell D, Ford D, Tonin P, Bishop DT, Spurr NK, Ponder BAJ, Eeles R, Peto J, Devilee P, Cornelisse C, Lynch H, Narod S, Lenoir G, Egilsson V, Barkadottir RB, Easton DF, Bentley DR, Futreal PA, Ashworth A and Stratton MR (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378: 789-792
27. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Fields P, Marshall G, Narod S, Lenoir GM, Lynch H, Feunteun J, Devilee P, Cornelisse CJ, Menko FH, Daly PA, Ormiston W, McManus R, Pye C, Lewis CM, Cannon-Albright LA, Peto J, Ponder BAJ, Skolnick MH, Easton DF, Golgar DE and Stratton MR (1994) Localization of a breast cancer susceptibility gene BRCA2 to chromosome 13q12-13. Science 265: 2088-2090