Mutations of the BRCA1 gene in human cancer

Seminars in Cancer Biology

Volumn 7, Issue 1, 1996, Pages 33-40

  Xu, Chun Fang ^a   Solomon, Ellen ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

BRCA1; Breast cancer; Mutation; Ovarian cancer

Indexed keywords

ZINC FINGER PROTEIN;

BREAST CANCER; CANCER GENETICS; CHROMOSOME 17Q; FAMILIAL CANCER; FEMALE; GENE MUTATION; GERM LINE; HUMAN; OVARY CANCER; REVIEW; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE;

EID: 0030007144     PISSN: 1044579X     EISSN: None     Source Type: Journal    
DOI: 10.1006/scbi.1996.0005     Document Type: Review

References (63)

1. Armstrong B, Doll R (1975) Environmental factors and cancer incidences and mortality in different countries, with special reference to dietary practices. Int J Cancer 15:617-631
2. McPherson K, Steel CM, Dixon JM (1994) Breast cancer-epidemiology risk factors, and genetics. BMJ 309:1003-1006
3. Newman B, Austin MA, Lee M, King M-C (1988) Inheritance of human breast cancer: evidence for autosomal dominant transmission in high risk families. Proc Natl Acad Sci USA 85:1-5
4. Claus EB, Risch N, Thompson WD (1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48:232-242
5. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King M-C (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684-1689
6. Solomon E, Ledbetter D (1992) Report of the committee on the genetic constitution of chromosome 17. Cytogenet Cell Genet 58:686-738
7. Easton DF, Bishop DT, Ford D, Crockford GP (1993) Genetic-linkage analysis in familial breast and ovarian-cancer - results from 214 families. Am J Hum Genet 52:678-701
8. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennet 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, Sone 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, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
9. 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, Goldgar DE, Stratton MR (1994) Localization of a breast cancer susceptibility gene, BRCA2 to chromosome 13q12-13. Science 265:2088-2090
10. Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
11. Knudson AG (1993) Antioncogenes and human cancer. Proc Natl Acad Sci USA 90:10914-10921
12. Skuse GR, Ludlow JW (1995) Tumour suppressor genes in diseases and therapy. The Lancet 345:902-906
13. Foulkes W, Black D, Solomon E, Trowsdale J (1991) Allele loss on chromosome 17q in sporadic ovarian cancer. Lancet 338:444-445
14. Eccles DM, Russell S, Haites NE, Atkinson R, Bell DW, Gruber L, Hickey I, Kelly K, Kitchener H, Leonard R, Lessells A, Lowry S, Miller I, Milner B, Steel M (1992) Early loss of heterozygosity on 17q in ovarian-cancer. Oncogene 7:2069-2072
15. Futreal PA, Soderkvist P, Marks JR, Iglehart JD, Cochran C, Barrett JC, Wiseman RW (1992) Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms. Cancer Res 52:2624-2627
16. Lindblom A, Skoog L, Rotstein S, Werelius B, Larsson C, Nordenskjold M (1993) Loss of heterozygosity in familial breast carcinomas. Cancer Res 53:4356-4361
17. Saito H, Inazawa J, Saito S, Kasumi F, Koi S, Sagae S, Kudo R, Saito J, Noda K, Nakamura Y (1993) Detailed deletion mapping of chromosome 17q in ovarian and breast cancers: 2-cM region on 17q 21.3 often and commonly deleted in tumors. Cancer Res 53:3382-3385
18. Cropp CS, Nevanlinna HA, Pyrhonen S, Stenman U-H, Salmikangas P, Albertsen H, White R, Callahan R (1994) Evidence for involvement of BRCA1 in sporadic breast carcinomas. Cancer Res 54:2548-2551
19. Lalle P, De Latour M, Rio P, Bignon Y-J (1994) Detection of allelic losses on 17q12-q21 chromosomal region in benign lesions and malignant tumor occurring in a familial context. Oncogene 9:437-442
20. Mori T, Aoki T, Matsubara T, Iida F, XiQun D, Nishihira T, Mori S, Nakamura Y (1994) Frequent loss of heterozygosity in the region including BRCA1 on chromosome 17q in squamous cell carcinomas of the esophagus. Cancer Res 54:1638-1640
21. Smith SA, Easton DF, Evans DGR, Ponder BAJ (1992) Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nature Genet 2:128-131
22. Neuhausen SL, Marshall CJ (1994) Loss of heterozygosity in familial tumors from three BRCA1-linked kindreds, Cancer Res 54:6069-6072
23. Kelsell DP, Black DM, Bishop DT, Spurr NK (1993) Genetic analysis of the BRCA1 region in a large breast ovarian family: refinement of the minimal region containing BRCA1. Hum Mol Genet 2:1823-1828
24. Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BAJ, Tonin P, Hamann U, Lindblom A, Lalle P (1995) High allele loss rates at 17q12-q21 in breast and ovarian-tumors from BRCA1-linked families. Genes Chromosomes Cancer 13:203-210
25. Negrini M, Sabbioni S, Haldar S, Possati L, Castagnoli A, Corallini A, Barbanti-Brodano G, Croce CM (1994) Tumor and growth suppression of breast cancer cells by chromosome 17-associated functions. Cancer Res 54:1818-1824
26. Casey G, Plummer S, Hoeltge G, Scanlon D, Fasching C, Stanbridge EJ (1993) Functional evidence for a breast cancer growth suppressor gene on chromosome 17. Hum Mol Genet 2:1921-1927
27. Freemont PS (1993) The RING finger. A novel protein sequence motif related to the zinc finger. Ann. NY Acad Sci 684:174-192
28. Xu C-F, Brown AM, Chambers JA, Griffiths B, Nicolai H, Solomon E (1995) Distinct transcription start sites generate two forms of BRCA1 and 1A1-3B mRNAs. Hum Mol Genet 12:2259-2264
29. Grompe M (1993) The rapid detection of unknown mutations in nucleic-acids. Nature Genet 5:111-117
30. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
31. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, Hoskins K, Weber B, Castilla L, Erdos M, Brody L, Friedman L, Ostermeyer E, Szabo C, King MC, Jhanwar S, Offit K, Norton L, Gilewski T, Lubin M, Osborne M, Black D, Boyd M, Steel M, Ingles S, Haile R, Lindblom A, Olsson H, Borg A, Bishop DT, Solomon E, Radice P, Spatti, G, Gayther S, Ponder B, Warren W, Stratton M, Liu Q, Fujimura F, Lewis C, Skolnick MH, Goldgar DE (1995) A collaborative survey of 80 mutations in the BRCA1 breast-cancer and ovarian-cancer susceptibility gene - implications for presymptomatic testing and screening. JAMA 273:535-541
32. Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM (1991) Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet 49:699-706
33. White MB, Carvalho M, Derse D, O'Brien SJ, Dean M (1992) Detecting single base substitution as heteroduplex polymorphisms. Genomics 12:301-306
34. Roest PAM, Roberts RG, Sugino S, van Ommen G-JB, den Dunnen JT (1993) Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 2:1719-1721
35. Hogervorst FBL, Cornelis RS, Bout M, Vanvliet M, Oosterwijk JC, Olmer R, Bakker B, Klijn JGM, Vasen HFA, Meijersheijboer H (1995) Rapid detection of BRCA1 mutations by the protein truncation test. Nature Genet 10:208-212
36. Plummer SJ, Antonculver H, Webster L, Noble B, Liao S, Kennedy A, Belinson J, Casey G (1995) Detection of BRCA1 mutations by the protein truncation test. Hum Mol Genet 4:1989-1991
37. Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavigian S, Bennett LM, Haugen-Strano A, Swensen J, Miki Y, Eddington K, McClure M, Frye C, Weaver-Feldhaus J, Ding W, Gholami Z, Soderkvist P, Terry L, Jhanwar S, Berchuck A, Iglehart JD, Marks J, Ballinger DG, Barrett JC, Skolnick MH, Kamb A, Wiseman R (1994) BRCA1 mutations in primary breast and ovarian carcinomas. Science 266:120-122
38. Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, Rowell SE, King M-C (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature Genet 8:399-404
39. Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, Deshano ML, Brody LC, Collins FS, Weber BL (1994) Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nature Genet 8:387-391
40. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, Leblanc J-F, Belanger C, Dion F, Liu Q, Skolnick M, Goldgar D, Shattuck-Eidens D, Labrie F, Narod SA (1994) Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nature Genet 8:392-398
41. Boyd M, Harris F, McFarlane R, Davidson HR, Black DM (1995) A human BRCA1 gene knockout. Nature 375:541-542
42. Tonin P, Serova O, Lenoir G, Lynch H, Durocher F, Simard J, Morgan K, Narod S (1995) BRCA1 mutations in Ashkenazi-Jewish women. Am J Hum Genet 57:189-189
43. Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TR, Smith SA, Collins FS, Tucker MA (1995) Detection of 8 BRCA1 mutations in 10 breast ovarian-cancer families, including 1 family with male breast-cancer. Am J Hum Genet 57:1-7
44. Takahashi H, Behbakht K, McGovern PE, Chiu HC, Couch FJ, Weber BL, Friedman LS, King MC, Furusato M, Livolsi VA (1995) Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res 55:2998-3002
45. Inoue R, Fukotomi T, Ushijima T, Matsumoto Y, Sugimura T, Nagao M (1995) Germline mutation of BRCA1 in Japanese breast-cancer families. Cancer Res 55:3521-3524
46. Matsushima M, Kobayashi K, Emi M, Saito H, Saito J, Suzumori K, Nakamura Y (1995) Mutation analysis of the BRCA1 gene in 76 Japanese ovarian-cancer patients-4 germline mutations, but no evidence of somatic mutation. Hum Mol Genet 4:1953-1956
47. Xu C-F, Chambers JA, Nicolai H, Brown M, Hugerat Y, Mohammed S, Hodgson S, Bishop T, Solomon E (1995) Mutations of the BRCA1 gene in eight breast/ ovarian cancer families. Submitted
48. Campbell IG, Nicolai HM, Foulkes WD, Senger G, Stamp GW, Allan G, Boyer C, Jones K, Bast RC, Solomon E, Trowsdale J, Black DM (1994) A novel gene encoding a b-box protein within the BRCA1 region at 17q21.1. Hum Mol Genet 3:589-594
49. Brown MA, Nicolai H, Xu C-F, Griffiths BL, Jones KA, Hosking L, Trowsdale J, Solomon E, Black DM, McFarlane R (1994) Regulation of BRCA1. Nature 372:733
50. Nakamura Y (1993) The role of the adenomatous polyposis coli (APC) gene in human cancer. Adv Cancer Res 62:65-86
51. Levine AJ, Perry ME, Chang A, Silver A, Dittmer D, Wu M, Welsh D (1994) The 1993 Walter Hubert lecture: the role of the p53 tumour-suppressor gene in tumorigenesis. Br J Cancer 69:409-416
52. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Colins FS, Brody LC (1995) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi-Jewish individuals. Nature Genet 11:198-200
53. Kunkel TA (1986) Farmshift mutagenesis by eucaryotic DNA polymerase in vitro. J Biol Chem 261:13581-13587
54. Trinh TQ, Sinden RR (1991) Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli. Nature 352:544-547
55. Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, Weber BL, Collins FS, Johnston C, Frank TS (1995) Somatic mutations in the BRCA1 gene in sporadic ovarian-tumors. Nature Genet 9:439-443
56. Hosking L, Trowsdale J, Nicolai H, Solomon E, Foulkes W, Stamp G, Signer E, Jeffreys A (1995) A somatic BRCA1 mutation in an ovarian tumor. Nature Genet 9:343-344
57. Vogelstein B, Kinzler KW (1994) Has the breast cancer gene been found? Cell 79:1-3
58. Liu B, Nicolaides NC, Markowitz S, Willson JKV, Parsons RE, Jen J, Papadopolous N, Peltomaki P, de la Chapelle A, Hamilton SR, Kinzler KW, Vogelstein B (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet 9:48-55
59. Gao X, Zacharek A, Salkowski A, Grignon DJ, Sakr W, Porter AT, Honn KV (1995) Loss of heterozygosity of the BRCA1 and other loci on chromosome 17q in human prostate cancer. Cancer Res 55:1002-1005
60. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE (1994) Risks of cancer in BRCA1 mutation carriers. Breast Cancer Linkage Consortium. Lancet 343:692-695
61. Arason A, Barkardottir RB, Egilsson V (1993) Linkage analysis of chromosome-17q markers and breast-ovarian cancer in icelandic families, and possible relationship to prostatic-cancer. Am J Hum Genet 52:711-717
62. Collins N, McManus R, Wooster R, Mangion J, Seal S, Lakhani SR, Ormiston W, Daly PA, Ford D, Easton DF (1995) Consistent loss of the wild-type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 10:1673-1675
63. Stratton MR, Ford D, Neuhasen S, Seal S, Wooster R, Friedman LS, King MC, Egilsson V, Devilee P, McManus R (1994) Familial male breast-cancer is not linked to the BRCA1 locus on chromosome 17q. Nature Genet 7:103-107