Inherited predisposition to breast cancer: After the BRCA1 and BRCA2 genes, what next?;Prédispositions héréditaires au cancer du sein: Après BRCA1 et BRCA2, quel(s) autre(s) gène(s)?

Bulletin du Cancer

Volumn 90, Issue 7, 2003, Pages 587-594

  Bonadona, Valérie ^a   Lasset, Christine ^a  

^a CENTRE LÉON BÉRARD   (France)

Author keywords

BRCA1; BRCA2; Breast cancer; Inherited predisposition; Low penetrance gene

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; BRCA2 GENE; BRCA3 GENE; BREAST CANCER; CANCER RESEARCH; CANCER RISK; CLONING; DNA MODIFICATION; FAMILIAL CANCER; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC MODEL; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENOME ANALYSIS; HUMAN; INHERITANCE; MALE BREAST; MALE BREAST CANCER; MULTIFACTORIAL INHERITANCE; MUTATION; NONMENDELIAN INHERITANCE; ONCOGENE; OVARY CANCER; PENETRANCE; PHENOCOPY; PHENOTYPE; POSITIONAL CLONING; REVIEW; SEGREGATION ANALYSIS; TRANSMISSION DISEQUILIBRIUM TEST;

BREAST NEOPLASMS; CHROMOSOME SEGREGATION; FAMILY; FEMALE; GENES, BRCA1; GENES, BRCA2; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION;

EID: 0041423454     PISSN: 00074551     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (59)

1. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990 ; 250 : 1684-9.
2. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994 ; 266 : 66-71.
3. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, et al. Localization of a breast cancer susceptibility, BRCA2, to chromosome 13q12-13. Science 1994 ; 265 : 2088-90.
4. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995 ; 378 : 789-92.
5. Sobol H, Birnbaum D, Eisinger F. Evidence for a third breast-cancer susceptibility gene. Lancet 1994 ; 344 : 1151-2.
6. Serova OM, Mazoyer S, Puget N, Dubois V, Tonin P, Shugart YY, et al. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet 1997 ; 60 : 486-95.
7. Hakansson S, Johannsson O, Johansson U, Sellberg G, Loman N, Gerdes AM, et al. Moderate frequency of BRCA1 and BRCA2 germline mutations in Scandinavian familial breast cancer. Am J Hum Genet 1997 ; 60 : 1068-78.
8. Vehmanen P, Friedman LS, Eetola H, McClure M, Ward B, Sarantaus L, et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet 1997 ; 6 : 2309-15.
9. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Linkage Consortium. Am J Hum Genet 1998 ; 62 : 676-89.
10. Easton DF. How many more breast cancer predisposition genes are there? Breast Cancer Res 1999 ; 1 : 14-7.
11. Weber BL, Nathanson KL. Low penetrance genes associated with increased risk for breast cancer. Eur J Cancer 2000 ; 36 : 1193-9.
12. Antoniou AC, Pharoah PDP, McMullan G, Day NE, Ponder BAJ, Easton D. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 2001 ; 21 : 1-18.
13. Antoniou AC, Pharoah PDP, McMullan G, Day NE, Stratton MR, Peto J, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 2002 ; 86 : 76-83.
14. Meijers-Heijboer H, Van Den Ouweland A, Klijn J, Wasielewski M, De Snoo A, Oldenburg R, et al. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nature Genet 2002 ; 31 : 55-9.
15. Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 2002 ; 71 : 432-8.
16. Ménégoz F, Chérié-Challine L. Le cancer en France : incidence et mortalité. Situation en 1995, évolution entre 1975 et 1995. Réseau Francim. La Documentation Française.
17. Pharoah PDP, Day NE, Duffy S, Easton DF, Ponder BAJ. Family history and the risk of breast cancer : a systematic review and meta-analysis. Int J Cancer 1997 ; 71 : 800-9.
18. Collaborative group on hormonal factors in breast cancer. Familial breast cancer : collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 10,1986 women without the disease. Lancet 2001 ; 358 : 1389-99.
19. American Society of Clinical Oncology Curriculum. Cancer genetics and cancer predisposition testing. ASCO, 1998.
20. Broca P. Traité des tumeurs. Tome 1 : Des tumeurs en général. Paris, P. Asselin éditeur, 1866 : 150.
21. Williams WR, Anderson DE. Genetic epidemiology of breast cancer : segregation analysis of 200 Danish pedigrees. Genet Epidemiol 1984 ; 1 : 7-20.
22. Claus EB, Risch NJ, Thompson WD. Genetic analysis of breast cancer in the Cancer and Steroid Hormone Study. Am J Hum Genet 1991 ; 48 : 232-42.
23. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer 1996 ; 77 : 2318-24.
24. Lasset C, Bonadona V. Prise en charge des femmes à risque héréditaire de cancer du sein : indications et modalités du dépistage par mammographie. Bull Cancer 2001 ; 88 : 677-86.
25. Frebourg T, Abel A, Bonaiti-Pellie C, Brugières L, Berrhet P, Bressac-de-Paillerets B, et al. Le syndrome de Li-Fraumeni : mise au point, données nouvelles et recommandations pour la prise en charge. Bull Cancer 2001 ; 88 : 581-7.
26. Chomprer A, Brugières L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000 ; 82 : 1932-7.
27. Longy M. La maladie de Cowden et le gène PTEN : un exemple d'intégration réussie entre clinique et biologie. Bull Cancer 2001 ; 88 : 1153-8.
28. Park JG, Vasen HF, Park KJ, Peltomaki P, Ponz de Leon M, Rodriguez-Bigas MA, et al. Suspected hereditary nonpolyposis colorectal cancer : International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis. Dis Colon Rectum 1999 ; 42 : 710-5.
29. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peurz-Jegher syndrome. Gastroenterology 2000 ; 119 : 1447-53.
30. Bay JO, Uhrhammer N, Stoppa-Lyonnet D, Hall J. Rôle du gène ATM dans la prédisposition génétique aux cancers. Bull Cancer 2000 ; 87 : 29-34.
31. Gad S, Caux-Moncoutier V, Pagès-Berhouet S, Gauthier-Villars M, Coupler I, Pujol P, et al. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 2002 ; 21 : 6841-47.
32. Peto J, Collins N, Barfoot R. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999 ; 91 : 943-9.
33. Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 2000 ; 83 : 1301-8.
34. Shugart YY, Cour C, Renard H, Lenoir G, Goldgar D, Teare D, et al. Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. J Med Genet 1999 ; 36 : 720-1.
35. Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, et al. Dominant negative mutations in breast cancer families. J Natl Cancer Inst 2002 ; 94 : 205-15.
36. Kerangueven F, Essioux L, Dib A, Noguchi T, Allione F, Geneix J, et al. Loss of heterozygosity and linkage analysis in breast carcinoma : indication for a putative third susceptibility gene on the short arm of chromosome 8. Oncogene 1995 ; 10 : 1023-6.
37. Seitz S, Rohde K, Bender E, Nothnagel A, Kölble K, Schlag PM, et al. Strong indication for a breast cancer susceptibility gene on chromosome 8p12-p22: linkage analysis in German breast cancer families. Oncogene 1997 ; 14 : 741-3.
38. Seitz S, Rohde K, Bender E, Nothnagel A, Pidde H, Ullrich OM, et al. Deletion mapping and linkage analysis provide strong indication for the involvement of the human chromosome region 8p12-p22 in breast carcinogenesis. Br J Cancer 1997 ; 76 : 983-91.
39. Rahman N, Teare MD, Seal S, Renard H, Mangion J, Cour C, et al. Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22. Oncogene 2000 ; 19 : 4170-3.
40. Kainu T, Juo SH, Desper R, Schaffer AA, Gillanders E, Rozenblum E, et al. Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus. Proc Natl Acad Sci USA 2000 ; 97 : 9603-8.
41. Du Q, Luo L, von Wachenfeldt A, Kockum I, Luthman H, Lindblom A. No evidence for a familial breast cancer susceptibility gene at chromosome 13q21 in Swedish breast cancer families. Int J Cancer 2002 ; 98 : 799-800.
42. Thompson D, Szabo CI, Mangion J, Oldenburg RA, Odefrey F, Seal S, et al. Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci USA 2002 ; 99 : 827-31.
43. Lange K. An approximate model of polygenic inheritance. Genetics 1997 ; 147 : 1423-30.
44. Cui J, Antoniou AC, Dite GS, Southey MC, Venter DJ, Easton DF, et al. After BRCA1 and BRCA2 - what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer. Am J Hum Genet 2001 ; 68 : 420-31.
45. Hopper JL, Carlin JB. Familial aggregation of a disease consequent upon correlation between relatives in a risk factor measured on a continuous scale. Am J Epidemiol 1992 ; 136 : 1138-47.
46. Peto J, Mack TM. High constant incidence in twins and other relatives of women with breast cancer. Nature Genet 2000 ; 26 : 390-1.
47. Mack TM. Heritable breast cancer in twins. Br J Cancer 2002 ; 87 : 294-300.
48. Nathanson KL, Weber BL. Other breast cancer susceptibility genes : searching for more holy grail. Hum Mol Genet 2001 ; 10 : 715-20.
49. Feingold J, Fellous M, Solignac M. Principes de génétique humaine. Paris : Éditions Hermann, 1998.
50. Dunning AM, Healey CS, Phaorah PD, Teare MD, Ponder BA, Easton DF. A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev 1999 ; 8 : 843-54.
51. Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, et al. Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum Mol Genet 2002 ; 11 : 1399-407.
52. De Jong MM, Nolte IM, te Meerman GJ, van der Graaf WTA, Oosterwijk JC, Kleibeuker JH, et al. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet 2002 ; 39 : 225-42.
53. Rebbeck T, Kantoff PW, Krithivas K, Neuhausen S, Blackwood MA, Godwin AK, et al. Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat. Am J Hum Genet 1999 ; 64 : 1371-7.
54. Kadouri L, Easton DF, Edwards S, Hubert A, Kote-Jarai Z, Glaser B, et al. CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers. Br J Cancer 2001 ; 85 : 36-40.
55. Haiman CA, Brown M, Hankinson SE, Spiegelman D, Colditz GA, Willter WC, et al. The androgen receptor CAG repeat polymorphism and risk of breast cancer in the Nurses' Health study. Cancer Res 2002 ; 62 : 1045-9.
56. Pharoah PDP, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BAJ. Polygenic susceptibility to breast cancer and implications for prevention. Nature Genetics 2002 ; 31 : 33-36.
57. Bell J. The new genetics in clinical practice. Br Med J 1998 ; 316 : 618-20.
58. Vineis P, Schulte P, McMichael AJ. Misconceptions about the use of genetic tests in populations. Lancet 2001 ; 357 : 709-12.
59. Holtzman NA and Marteau TM. Will genetics revolutionize medicine? N Engl J Med 2000 ; 343 : 141-4.