The BRCA1 and BRCA2 breast cancer genes

Current Opinion in Oncology

Volumn 9, Issue 1, 1997, Pages 88-93

  Casey, Graham ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BREAST CANCER; CANCER GENETICS; CELL DIFFERENTIATION; CHROMOSOMAL LOCALIZATION; CHROMOSOME 17Q; EPITHELIUM CELL; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; HUMAN; PRIORITY JOURNAL; REVIEW; TRANSCRIPTION REGULATION;

EID: 0030970137     PISSN: 10408746     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001622-199701000-00014     Document Type: Review

References (84)

1. Claus EB, Risch N, Thompson WD: Genetic analysis of breast cancer in the Cancer and Steroid Hormone Study. Am J Hum Genet 1991, 48:232-242.
2. Claus EB, Schildkraut JM, Thompson WD, Risch NJ: The genetic attributable risk of breast and ovarian cancer. Cancer 1996, 77:2318-2324.
3. American Cancer Society Cancer Facts and Figures. 1996.
4. Hall JH, Lee MK, Newman B, et al.: Linkage to early-onset familial breast cancer to chromosome 17q21. Science 1990, 250:1684-1689.
5. Miki Y, Swensen J, Shattuck-Eidens D, et al.: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266:66-71.
6. Easton D, Ford D, Peto J: Inherited susceptibility to breast cancer. Cancer Surv 1993, 18:95-113.
7. Narod SA, Ford D, Devilee P, et al.: An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families: Breast Cancer Linkage Consortium. Am J Hum Genet 1995, 56:254-264.
8. Wooster R, Neuhausen SL, Mangion J, et al.: Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994, 265:2088-2090.
9. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE: Risks of cancer in BRCA1-mutation carriers: Breast Cancer Linkage Consortium. Lancet 1994, 343:692-695.
10. Easton DF, Ford D, Bishop DT: Breast and ovarian cancer incidence in BRCA1-mutation carriers: Breast Cancer Linkage Consortium. Am J Hum Genet 1995, 56:265-271.
11. Wooster R, Bignell G, Lancaster J, et al.: Identification of the breast cancer susceptibility gene BRCA2. Nature 1995, 378:789-792. This paper is the first to describe the cloning of a partial BRCA2 gene and the first description of mutations in breast cancer families.
12. Tavtigian SV, Simard J, Rommens J, et al.: The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 1996, 12:333-337. This paper describes the cloning of the complete BRCA2 gene, and it reports additional BRCA2 mutations in breast cancer families.
13. Schutte M, da Costa LT, Hahn SA, et al.: Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region. Proc Natl Acad Sci U S A 1995, 92:5950-5954.
14. Teng DHF, Bogden R, Mitchell J, et al.: Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat Genet 1996, 13:241-244.
15. Gudmundsson J, Johannesdottir G, Arason A, et al.: Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. Am J Hum Genet 1996, 58:749-756.
16. Szabo CI, King MC: Inherited breast and ovarian cancer. Hum Mol Genet 1995, 1811-1817.
17. Couch FJ, Farid LM, DeShano ML, et al.: BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genet 1996, 13:123-125.
18. Xu CF, Brown MA, Chambers JA, et al.: Distinct transcription start sites generate two forms of BRCA1 mRNA. Hum Mol Genet 1995, 4:2259-2264.
19. Brown MA, Xu C-F, Nicolai H, et al.: The 5′ end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21. Oncogene 1996, 12:2507-2513.
20. Shattuck-Eidens D, McClure M, Simard J, et al.: A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA 1995, 273:535-541.
21. Friend S, Borresen A-L, Brody L, et al.: Breast cancer information on the web. Nat Genet 1995, 11:238-239. This paper describes a World Wide Web site containing BRCA1 and BRCA2 mutation information and methods for detecting mutations. This site is constantly being updated and represents an excellent resource for information on BRCA1 and BRCA2.
22. Couch FJ, Weber BL, Borresen A-L, et al.: Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum Mutation 1996, 8:8-18.
23. Castilla LH, Couch FJ, Erdos MR, et al.: Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 1994, 8:387-391.
24. Friedman LS, Ostermeyer EA, Szabo CI, et al.: Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 1994, 8:399-404.
25. Merajver SD, Pham TM, Caduff RF, et al.: Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat Genet 1995, 9:439-443.
26. Sharan SK, Wims M, Bradley A: Murine Brca1: sequence and significance for human missense mutations. Hum Mol Genet 1995, 4:2275-2278. This paper describes the cloning and characterization of the mouse BRCA1 gene. Comparative studies show that the majority of missense mutations identified in BRCA1 occur in amino acids that are conserved between the human and mouse genes, suggesting that they represent cancer predisposing mutations.
27. Bennett LM, Haugen-Strano A, Cochran C, et al.: Isolation of the mouse homologue of BRCA1 and genetic mapping to mouse chromosome 11. Genomics 1995, 29:576-581. This paper describes the cloning and characterization of the mouse Brca1 gene. Comparative studies show that the majority of missense mutations identified in BRCA1 occur in ammo acids that are conserved between the human and mouse genes, suggesting that they represent cancer predisposing mutations.
28. Phelan CM, Lancaster JM, et al.: Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996, 13:120-122.
29. Gayther SA, Warren W, Mazoyer S, et al.: Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995, 11:428-433. This paper describes a possible genotype-phenotype correlation involving the site of the BRCA1 mutation within the gene. This study reports that families with a mutation within the first two thirds of the gene may have a higher incidence of ovarian cancers.
30. Struewing JP, Abeliovich D, Peretz T, et al.: The carrier frequency of the BRCA1 185de1AG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995, 11:198-200.
31. Tonin P, Serova O, Lenoir G, et al.: BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 1995, 57:189.
32. Offit K, Gilewski T, McGuire P, et al.: Germline BRCA1 185de1AG mutations in Jewish women with breast cancer. Lancet 1996, 347:1643-1645.
33. Muto MG, Cramer DW, Tangir J, Berkowitz R, Mok S: Frequency of the BRCA1 185de1AG mutation among Jewish women with ovarian cancer and matched population controls. Cancer Res 1996, 56:1250-1252.
34. Berman DB, Wagner Costalas J, Schultz DC, et al.: Two distinct origins of a common BPCA1 mutation in breast-ovarian cancer families: a genetic study of 15 785de1AG-mutation kindreds. Am J Hum Genet 1996, 58:1166-1176.
35. Simard J, Tonm P, Durocher F, et al.: Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 1995, 8:392-398.
36. Johannsson O, Ostermeyer EA, Hakansson S, et al.: Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet 1996, 58:441-450.
37. Thorlacius S, Olafsdottir G, Tryggvadottir L, et al.: A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996, 13:117-119.
38. Neuhausen S, Gilewski T, Norton L, et al.: Recurrent BRCA2 6174de1T mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 1996, 13:126-128.
39. Phelan CM, Rebbeck TR, Weber BL, et al.: Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nat Genet 1996, 12:309-311. This paper reports that there is an association between increased ovarian cancer incidence in BRCA1 family members harboring H-RAS1 rare alleles. This result suggests that the H-RAS1 locus is a BRCA1 modifying locus for ovarian cancer risk.
40. Friend SH: Breast cancer susceptibility testing: realities in the post-genomic era. Nat Genet 1996, 13:16-17. This paper discusses some of the important issues related to presymptomatic testing for adult-inherited cancers.
41. Plummer SJ, Casey G: Are we any closer to genetic testing for common malignancies? Nat Medicine 1996, 2:156-158. This paper discusses some of the challenges regarding laboratory approaches for genetic testing.
42. Garber JE, Schrag D: Testing for inherited cancer susceptibility. JAMA 1996, 275:1928-1929. This editorial discusses some of the challenges that we face with the implementation of genetic testing.
43. Abel KJ, Xy J, Yin GY, et al.: Mouse Brca1: localization sequence analysis and identification of evolutionary conserved domains. Hum Mol Genet 1995, 4:2265-2273.
44. Lane TF, Deng C, Elson A, et al.: Expression of Brca1 is associated with terminal differentiation of ectodermally and mesodermally derived tissues in mice. Genes Dev 1995, 9:2712-2722. This paper describes the expression of the mouse Brca1 gene during development. Expression is localized during later development to tissues undergoing proliferation and differentiation.
45. Schrock E, Badger P, Larson D, et al.: The murine homolog of the human breast and ovarian cancer susceptibility gene Brca1 maps to mouse chromosome 11D. Hum Genet 1996, 97:256-259.
46. Bernards R, Schackleford GM, Gerber MR, et al.: Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein. Proc Natl Acad Sci U S A 1989, 86:6474-6478.
47. Buckler AJ, Pelletier J, Haber DA, Glaser T, Houseman DE: Isolation, characterization, and expression of the murine Wilm's tumor gene (WT1) during kidney development. Mol Cell Biol 1991, 11:1707-1712.
48. Gowen LC, Johnson BL, Latour AM, Sulik KK, Koller BH: Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nat Genet 1996, 12:191-194. This paper reports that homozygous inactivation of the BRCA1 gene results in embryonic lethality.
49. Hakem R, de la Pompa JL, Sirard C, et al.: The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell 1996, 85:1009-1023. This paper reports that homozygous inactivation of the BRCA1 gene results in embryonic lethality, and that the expression of the cyclin-dependent kinase p21 is elevated in BRCA1 null embryos, further establishing a role for BRCA1 in proliferation and differentiation decisions.
50. Boyd M, Harris F, McFarlane R, Davidson RH, Black DM: A human BRCA1 gene knockout. Nature 1995, 375:541-542. This letter to the editor reports a woman with early onset breast cancer whom represents a human BRCA1 knockout, possessing a homozygous germline mutation in Brca1. This is in contrast with mouse studies that report that homozygous inactivation of the Brca1 gene results in early embryonic death. This finding suggests that either the human and mouse Brca1 genes perform different functions during development, or that the truncated BRCA1 protein contains all of the domains necessary for normal function during development.
51. Marquis ST, Rajan JV, Wynshaw-Boris A, et al.: The developmental pattern of Brca1 expression implies a role in differentiation of the breast and other tissues. Nat Genet 1995, 11:17-26. This paper describes the expression patterns of BRCA1 in developing mouse embryos. Expression is restricted to tissues undergoing proliferation and differentiation in later-stage embryos.
52. Gudas JM, Nguyen H, Li T, Cowan KH: Hormone-dependent regulation of BRCA1 in human breast cancer cells. Cancer Res 1995, 55:4561-4565.
53. Gudas JM, Li T, Nguyen H, et al.: Cell cycle regulation of BRCA1 messenger RNA in human breast epithelial cells. Cell Growth Differen 1996, 7:717-723.
54. Sherr CJ: G1 phase progression: cycling on cue. Cell 1994, 79:551-555.
55. Hunter T, Pines J: Cyclins and cancer II: cyclin D and CDK inhibitors come of age. Cell 1994, 79:573-582.
56. Stinchcomb DT: Constraining the cell cycle: regulating cell division and differentiation by gene therapy. Nature Med 1995, 1:1004-1006.
57. Schmid P, Lorez A, Hameister H, Montenarh M: Expression of p53 during mouse embryogenesis. Development 1991, 113:857-865.
58. Sicinski P, Donaher JL, Parker SB, et al.: Cyclin D1 provides a link between development and oncogenesis in the retina and breast. Cell 1995, 82:621-630.
59. Vaughn JP, Davis PL, Jarboe MD, et al.: BRCA1 expression is induced before DNA synthesis in both normal and tumor-derived breast cells. Cell Growth Differen 1996, 7:711-715.
60. Chen Y, Farmer AA, Chen C-F, et al.: BRCA1 is a 220-kDa nuclear phosphoprotein that is expressed and phosphorylated in a cell cycle-dependent manner. Cancer Res 1996, 56:3168-3172.
61. Thompson ME, Jensen RA, Obermiller PS, Page DL, Holt JT: Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nat Genet 1995, 9:444-450.
62. Rao VN, Shao N, Ahmad M, Reddy ES: Antisense RNA to the putative tumor suppressor gene BRCA1 transforms mouse fibroblasts. Oncogene 1996, 12:523-528.
63. Eisinger F, Stoppa-Lyonnet D, Longy M, et al.: Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer. Cancer Res 1996, 56:471-474.
64. Chen Y, Chen CF, Riley DJ, et al.: Aberrant subcellular localization of BRCA1 in breast cancer. Science 1995, 270:789-791. This paper presents evidence that the BRCA1 protein is normally nuclear in localization, but that it is aberrantly localized to the cytoplasm in breast cancer cells.
65. Scully R, Ganesan S, Brown M, et al.: Localization of BRCA1 in human breast and ovarian cancer cells. Science 1996, 272:123-125. This report provides evidence supporting the nuclear localization of the BRCA1 protein, but it disputes the aberrant localization of the BRCA1 protein to the cytoplasm in breast cancer cells.
66. Jensen RA, Thompson ME, Jetton TL, et al.: BRCA1 is secreted and exhibits properties of a granin. Nat Genet 1996, 12:303-308. This paper reports that the BRCA1 protein is localized to the cytoplasm, and that the BRCA1 gene contains a granin motif, suggesting that BRCA1 may function as a secreted inhibitory protein.
67. Jensen RA, Thompson ME, Jetton TL, et al.: BRCA1 protein products - antibody specificity ...functional motifs...and secreted tumour suppressors [reply]. Nat Genet 1996, 13:269-272. This report continues the debate concerning the functional localization of the BRCA1 protein.
68. Wilson CA, Payton MN, Pekar SK, et al.: BRCA1 protein products: antibody specificity. Nat Genet 1996, 13:264-265. This report continues the debate concerning the functional localization of the brca1 protein, and presents data suggesting that some brca1 antibodies may be cross-reacting with other cellular proteins.
69. Bradley A, Sharan SK: BRCA1 protein products: secreted tumour suppressors. Nat Genet 1996, 13:268-269. This report disputes the presence of a granin motif in the BRCA1 gene, citing the poor level of homology of this domain in the mouse BRCA1 gene.
70. Koonin EV, Altschul SF, Bork P: ...Functional motifs... Nat Genet 1996, 13:266-267.
71. Kelsell DP, Black DM, Bishop DT, Spurr NK: Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1. Hum Mol Genet 1993, 2:1823-1828.
72. Collins N, McManus R, Wooster R, et al.: Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 1995, 10:1673-1675.
73. Futreal PA, Soderkvist P, Marks JR, et al.: Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms. Cancer Res 1992, 52:2624-2627.
74. Cropp CS, Nevanlinna HA, Pyrhonen S, et al.: Evidence for involvement of BRCA1 in sporadic breast carcinomas. Cancer Res 1994, 54:2548-2551.
75. Kirchweger R, Zeillinger R, Schneeberger C, et al.: Patterns of allele losses suggest the existence of five distinct regions of LOH on chromosome 17 in breast cancer. Int J Cancer 1994, 56:193-199.
76. Holt JT, Thompson ME, Szabo C, et al.: Growth retardation and tumour inhibition by BRCA1. Nat Genet 1996, 12:298-302. This paper reports the growth inhibition of tumor cells expressing exogenous BRCA1, supporting the role of BRCA1 as a tumor-suppressor gene.
77. Futreal PA, Liu Q, Shattuck-Eidens D, et al.: BRCA1 mutations in primary breast and ovarian carcinomas. Science 1994, 266:120-122.
78. Hosking L, Trowsdale J, Nicolai H, et al.: A somatic BRCA1 mutation in an ovarian tumour. Nat Genet 1995, 9:343-344.
79. Takahashi H, Behbakht K, McGovern PE, et al.: Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res 1995, 55:2998-3002.
80. Radford DM, Fair KL, Philips NJ, et al.: Allotyping of ductal carcinoma in situ of the breast: deletion of loci on 8p, 13q, 16q, 17p and 17q. Cancer Res 1995, 55:3399-3405.
81. Nagai MA, Medeiros AC, Brentani MM, et al.: Five distinct deleted regions on chromosome 17 defining different subsets of human primary breast tumors. Oncology 1995, 52:448-453.
82. Lancaster JM, Wooster R, Mangion J, et al.: BRCA2 mutations in primary breast and ovarian cancers. Nat Genet 1996, 13:238-240.
83. Miki Y, Katagiri T, Kasumi F, Yoshimoto T, Nakamura Y: Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 1996, 13:245-247.
84. Cleton-Jansen AM, Collins N, Lakhani SR, et al.: Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13. Br J Cancer 1995, 72:1241-1244.