The genetics of breast cancer susceptibility

Annual Review of Genetics

Volumn 32, Issue , 1998, Pages 95-121

  Rahman, Nazneen ^a   Stratton, Michael R ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

BRCA1; BRCA2; Breast cancer; Ovarian cancer

Indexed keywords

BREAST CANCER; BREAST CARCINOGENESIS; CANCER RISK; GENE MUTATION; GENETIC RISK; HUMAN; NONHUMAN; ONCOGENE; PRIORITY JOURNAL; REVIEW;

BRCA2 PROTEIN; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, TUMOR SUPPRESSOR; GENOTYPE; GERM-LINE MUTATION; HUMANS; MUTATION; NEOPLASM PROTEINS; OVARIAN NEOPLASMS; PHENOTYPE; RISK FACTORS; TRANSCRIPTION FACTORS;

EID: 0032441791     PISSN: 00664197     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genet.32.1.95     Document Type: Review

References (88)

1. Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, et al. 1997. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am. J. Hum. Genet. 60:505-14
2. Beller U, Halle D, Catane R, Kaufman B, Hornreich G, et al. 1997. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynaecol. Oncol. 67:123-26
3. Bignell G, Micklem G, Stratton MR, Ashworth A, Wooster R. 1997. The BRC repeats are conserved in mammalian BRCA2 proteins. Hum. Mol. Genet. 6:53-58
4. Boyd M, Harris F, McFarlane R, Davidson HR, Black DM. 1995. A human BRCA1 gene knockout. Nature 375:541-42
5. Breast Cancer Linkage Consortium. 1997. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 249:1505-10
6. Brunet JS, Narod SA, Tonin P, Foulkes WD. 1997. BRCA1 mutations and survival in women with ovarian cancer. N. Engl. J. Med. 336:1256
7. Callebaut I, Mornon JP. 1997. From BRCA1 to RAP2: a widespread BRCT module closely associated with DNA repair. FEBS Lett. 400:25-30
8. Chapman MS, Verma IM. 1996. Transcriptional activation by Brca1. Nature 382:678-79
9. Chen Y, Chen CF, Riley DJ, Alfred DC, Chen PL, et al. 1995. Aberrant subcellular localisation of BRCA1 in breast cancer. Science 270:789-91
10. Claus EB, Risch N, Thompson WD. 1991. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am. J. Hum. Genet. 48:232-42
11. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. 1996. The genetic attributable risk of breast and ovarian cancer. Cancer 77:2318-24
12. Collins N, McManus R, Wooster R, Mangion J, Seal S, et al. 1995. Consistent loss of the wild-type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 10:1673-75
13. Collins N, Wooster R, Stratton MR. 1997. Absence of methylation of CpG dinucleotides within the promoter of the breast cancer susceptibility gene BRCA2 in normal tissues and in breast and ovarian cancers. Br. J. Cancer 76:1151-56
14. Connor F, Bertwistle D, Mee PJ, Ross GM, Swift S, et al. 1997. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nat. Genet. 17:423-29
15. Connor F, Smith A, Wooster R, Stratton M, Dixon A, et al. 1997. Cloning, chromosomal mapping and expression mapping of the mouse BRCA2 gene. Hum. Mol. Genet. 6:291-300
16. Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, et al. 1995. High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCA1-linked families. Genes Chromosomes Cancer 13:203-10
17. Crook T, Crossland S, Crompton MR, Osin P, Gusterson BA. 1997. p53 mutations in BRCA1-associated familial breast cancer. Lancet 350:638-39
18. Dobrovic A, Simpfendorfer D. 1997. Methylation of the BRCA1 gene in sporadic breast cancer. Cancer Res. 57:3347-50
19. 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
20. Easton DF, Ford D, Bishop DT. 1995. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am. J. Hum. Genet. 56:265-71
21. Easton DF, Ford D, Peto J. 1993. Inherited susceptibility to breast cancer. Cancer Surv. 18:95-113
22. Easton DF, Steele L, Fields P, Ormiston W, Averill D, et al. 1997. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am. J. Hum. Genet. 61:120-28
23. Fitzgerald MG, Macdonald DJ, Krainer M, Hoover I, O'Neil E, et al. 1996. Germline BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N. Engl. J. Med. 334:143-49
24. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. 1994. Risks of cancer in BRCA1 - mutation carriers. Lancet 343:692-95
25. Ford D, Easton DF, Peto J. 1995. Estimates of the gene frequency of BRCA1 mutations and its contribution to breast and ovarian cancer incidence. Am. J. Hum. Genet. 57:1457-62
26. Ford D, Easton DF, Stratton MR, Narod SA, Goldgar D, et al. 1998. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am. J. Hum. Genet. 62:676-89
27. Foulkes WD, Wong N, Brunet JS, Begin LR, Zhang JC, et al. 1997. Germline BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer. Clin. Cancer Res. 3:2465-70
28. Friedman LS, Gayther SA, Kurosaki T, Gordon D, Noble B, et al. 1997. Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am. J. Hum. Genet. 60:313-19
29. Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, et al. 1994. BRCA1 mutations in primary breast and ovarian carcinomas. Science 266:120-22
30. Gayther SA, Mangion J, Russell P, Seal S, Barfoot R, et al. 1997. Variation of risks of breast and ovarian cancer associated with different mutations of the BRCA2 gene. Nat. Genet. 15:103-5
31. Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, et al. 1995. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat. Genet. 11:428-33
32. Gretarsdottir S, Thorlacious S, Valgardsdottir R, Gudlaugsdottir S, Sigurdsson S, et al. 1998. BRCA2 and p53 mutations in primary breast cancer in relation to genetic instability. Cancer Res. 58:859-62
33. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, et al. 1990. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684-89
34. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, et al. 1998. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391:184-87
35. Jensen RJ, Thompson ME, Jetton TL, Szabo CI, van deer Meer R, et al. 1996. BRCA1 is secreted and exhibits properties of a granin. Nat. Genet. 12:303-8
36. Johannesdottir G, Gudmundsson J, Bergthorsson JT, Arason A, Bjarni A, et al. 1996. High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Res. 56:3663-65
37. Johansson O, Ranstam J, Borg A, Olsson H. 1997. BRCA1 mutations and survival in women with ovarian cancer. N. Engl. J. Med. 336:1255-56
38. Karp SE, Tonin PN, Begin LR, Martinez JJ, Zhang JC, et al. 1997. Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women. Cancer 80:435-41
39. Knudson AG. 1993. Antioncogenes and human cancer Proc. Natl. Acad. Sci. USA 90:10914-21
40. Koonin EV, Altschul SF, Bork P. 1996. BRCA1 protein products: functional motifs. Nat. Genet. 13:266-67
41. Krainer M, Silva-Arrieta S, Fitzgerald MG, Shimada A, Ishioka C. 1997. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N. Engl. J. Med. 336:1416-21
42. Krontiris TG, Devlin B, Karp DD, Robert N, Risch N. 1993. An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. N. Engl. J. Med. 329:517-23
43. Lakhani SR, Jacquemier J, Sloane JP, Gusterson BA, Anderson TJ, et al. 1998. Pathology of familial breast cancer (II): multifactorial analysis of morphological differences between breast cancers due to BRCA1, BRCA2 and controls. J. Natl. Cancer Inst. In press
44. Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, et al. 1996. BRCA2 mutations in primary breast and ovarian cancers. Nat. Genet. 13:238-40
45. Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA. 1996. BRCA1 mutations in a population-based sample of young women with breast cancer. N. Engl. J. Med. 334:137-41
46. Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, et al. 1997. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat. Genet. 16:64-67
47. Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, et al. 1997. Inherited mutations in PTEN that are associated with breast cancer. Cowden disease and juvenile polyposis. Am. J. Hum. Genet. 61: 1254-60
48. Marcus JN, Watson P, Page DL, Narod SA, Lenoir GM, et al. 1995. Hereditary breast cancer. Cancer 77:697-709
49. Mazoyer S, Dunning AM, Serova O, Dearden J, Puget N. et al. 1996. A polymorphic stop codon in BRCA2. Nat. Genet. 14:253-55
50. Miki Y, Swensen J, Shattuck Eidens D, Futreal PA, Harshman K, et al. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
51. Modan B, Gak E, Bar Sade-Bruchim R, Hirsh-Yechezkel G, Theodor L, et al. 1996. High frequency of BRCA1 185delAG mutation in ovarian cancer in Israel. JAMA 276:1823-25
52. Narod SA, Goldgar D, Cannon-Albright L, Weber B, Moleshi R, et al. 1995. Risk modifiers in carriers of BRCA1 mutations. Int. J. Cancer 64:394-98
53. Neuhausen SL, Gilewski T, Norton L, Tran Thao, McGuire P, et al. 1996. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat. Genet. 13:126-28
54. Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, et al. 1996. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families. Am. J. Hum. Genet. 58:271-80
55. Offit K, Gilewski T, McGuire T, Schluger P, Hampel H, et al. 1996. Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet 347: 1643-44
56. Patel KJ, Yu VPC, Lee H, Corcoran A, Thistlethwaite FC, et al. 1998. Involvement of Brca2 in DNA repair. Mol. Cell 1:347-57
57. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, et al. 1997. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat. Genet. 17:341-45
58. Phelan CM, Rebbeck TR, Weber BL, Devilee P, Ruttledge MH, et al. 1996. Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat locus. Nat. Genet. 12: 309-11
59. Porter DE, Cohen BB, Wallace MR, Smyth E, Chetty U, et al. 1994. Breast cancer incidence, penetrance and survival in probable carriers of BRCA1 gene mutation in families linked to BRCA1 on chromosome 17q12-21. Br. J. Surg. 81:1512-15
60. Ramus SJ, Friedman LS, Gayther SA, Ponder BA, Bobrow LG, et al. 1997. A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2. Nat. Genet. 15:14-15
61. Risinger JI, Barrett JC, Watson P, Lynch HT, Boyd J. 1996. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer 77:1836-4.3
62. Roa BB, Boyd AA, Volcik K, Richards CS. 1996. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat. Genet. 14: 185-87
63. Rosenblatt KA, Thomas DB, McTiernan A, Austin MA, Stalsberg H, et al. 1991. Breast cancer in men: aspects of familial aggregation. J. Natl. Cancer Inst. 83:849-54
64. Rubin SC, Benjamin I, Behbakht K, Takahashi H, Morgan MA, et al. 1996. Clinical and pathological features of ovarian cancer in women with germline mutations of BRCA1. N. Engl. J. Med. 33:1413-16
65. Saurin AJ, Borden, KL, Boddy MN, Freemont PS. 1996. Does this have a familiar RING? Trends Biochem. Sci. 21: 208-14
66. Savelyeva L, Claas A, Gier S, Schlag P, Finke L, et al. 1998. An interstitial tandem duplication of 9p23-24 coexists with a mutation in the BRCA2 gene in the germline of three brothers with breast cancer. Cancer Res. 58:863-66
67. Schmucker B, Krawczak M. 1997. Meiotic microdeletion breakpoints in the BRCA1 gene are significantly associated with symmetric DNA-sequence elements. Am. J. Hum. Genet. 61:1454-56
68. Scully R, Chen J, Plug A, Xiao Y, Weaver D, et al. 1997. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 88:265-75
69. Seitz S, Rohde K, Bender E, Nothangel A, Pidde H, et al. 1998. Deletion mapping and linkage analysis provide strong indication for the involvement of the human chromosome region 8p12-p22 in breast carcinogenesis. Br. J. Cancer 76:983-91
70. Sharan SK, Wims A, Bradley A. 1995. Murine brca1: sequence and significance for human missense mutations. Hum. Mol. Genet. 4:2275-78
71. Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Rausch G, et al. 1992. Inherited p53 gene mutations in breast cancer. Cancer Res. 52:2984-86
72. Sobol H, Birnbaum D, Eisinger F. 1994. Evidence for a third breast-cancer susceptibility gene. Lancet 344:1151-52
73. Sobol H, Stoppa-Lyonnet D, Bressac-de-Paillerets B, Peyrat JP, Kerangueven F, et al. 1996. Truncation at conserved terminal regions of BRCAI protein is associated with highly proliferating hereditary breast cancers. Cancer Res. 56:3216-19
74. Spencer Feigelson H, Coetzee GA, Kolonel LN, Ross RK, Henderson BE. 1997. A polymorphism in CYP17 increases the risk of breast cancer. Cancer Res. 57:1063-65
75. Stratton JF, Gayther SA, Russell P, Dearden J, Gore M, et al. 1997. Contribution of BRCA1 mutations to ovarian cancer. N. Engl. J. Med. 336:1125-30
76. Stratton MR, Ford D, Neuhasen S, Seal S, Wooster R, et al. 1994. Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nat. Genet. 7:103-7
77. Struewing JP, Hange P, Wacholder S, Baker SM, Berlin M, et al. 1997. Risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N. Engl. J. Med. 336:1401-8
78. Swensen J, Hoffman M, Skolnick MH, Neuhausen SL. 1997. Identification of a 14-kb deletion involving the promoter of BRCA1 in a breast cancer family. Hum. Mol. Genet. 6:1513-17
79. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, et al. 1996. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat. Genet. 12:333-37
80. Thorlacius S, Sigurdsson S, Bjarnadottir H, Olafsdottir G, Jonasson JG, et al. 1997. Study of a single BRCA2 mutation with a high carrier frequency in a small population. Am. J. Hum. Genet. 60:1079-84
81. Tirkkonen M, Johannsson O, Agnarsson BA, Olsson H, Ingvarsson S, et al. 1997. Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations. Cancer Res. 57:1222-27
82. Verhoog LC, Brekelmans CTM, Seynaeve C, van den Bosch LMC, Dahmen G, et al. 1998. Survival and tumor characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 351:316-21
83. Wong AK, Pero R, Ormonde PA, Tavtigian SV, Bartel PA. 1997. RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene BRCA2. J. Biol. Chem. 272:31941-44
84. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, et al. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-91
85. Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, et al. 1992. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nat. Genet. 2:132-34
86. Wooster R, Neuhasen SL, Mangion J, Quirk Y, Ford D, et al. 1994. Localisation of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265:2088-90
87. Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, et al. 1996. Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nat. Genet. 14:430-40
88. Zhang H, Tombine G, Weber B. 1998. BRCA1, BRCA2, and DNA damage response: collision or collusion. Cell 92: 433-36