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Cancer du sein pp 15–40Cite as

Diagnostic des patientes à risque de cancer du sein

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Conclusion

Aujourd’hui, dans certaines situations familiales bien documentées et sévères, des tests génétiques sont proposés. Leurs enjeux principaux sont de rassurer les apparentées non prédisposées, et, pour les apparentées prédisposées, de mettre en route une surveillance mammaire dès l’âge de 30 ans, voire dès 25 ans, et de recommander une chirurgie ovarienne prophylactique à 40 ou 50 ans en fonction du contexte.

Deux défis restent à relever : l’identification de nouveaux gènes de prédisposition et la caractérisation d’éventuelles interactions entre le risque familial et les risques hormonaux. Dans les deux cas, ces connaissances permettront d’être plus précis dans l’estimation des risques individuels. Enfin, devant le doublement de l’incidence des cancers du sein au cours de ces trente dernières années, il est crucial de repérer les facteurs qui, liés à notre mode de vie, ont un impact si important sur la population générale et probablement aussi sur les femmes prédisposées.

Cet article a déjà fait l’objet d’une publication dans le noHors série de Références en gynécologie obstétrique intitulé Cancer du sein : nouvelles approches diagnostiques et thérapeutiques. (RGO-2005, Vol 11, noHors série Cancer du sein).

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Références

  1. Armstrong K, Eisen A, Weber B (2000) Assessing the risk of breast cancer. N Engl J Med 342(8): 564–71

    Article  PubMed  CAS  Google Scholar 

  2. Claus EB, Risch N, Thompson WD (1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48(2): 232–42

    PubMed  CAS  Google Scholar 

  3. Hall JM et al. (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250(4988): 1684–9

    PubMed  CAS  Google Scholar 

  4. Miki Y et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182): 66–71

    PubMed  CAS  Google Scholar 

  5. Narod SA et al. (1991) Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet 338(8759): 82–3

    Article  PubMed  CAS  Google Scholar 

  6. Wooster R et al. (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265(5181): 2088–90

    PubMed  CAS  Google Scholar 

  7. Wooster R et al. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature, 378(6559): 789–92

    Article  PubMed  CAS  Google Scholar 

  8. Smith SA et al. (1992) Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat Genet 2(2): 128–31

    Article  PubMed  CAS  Google Scholar 

  9. Monteiro AN (2003) BRCA1: the enigma of tissue-specific tumor development. Trends Genet, 19(6): 312–5

    Article  PubMed  CAS  Google Scholar 

  10. Ford D et al. (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62(3): 676–89

    Article  PubMed  CAS  Google Scholar 

  11. Puget N et al. (1999) Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59(2): 455–61

    PubMed  CAS  Google Scholar 

  12. Gad S et al. (2002) Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene sous presse

    Google Scholar 

  13. Pharoah PD et al. (2002) Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 31(1): 33–6

    Article  PubMed  CAS  Google Scholar 

  14. Antoniou AC et al. (2001) Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 21(1): 1–18

    Article  PubMed  CAS  Google Scholar 

  15. Antoniou AC et al. (2002) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86(1): 76–83

    Article  PubMed  CAS  Google Scholar 

  16. Eisinger F et al. (1999) Inserm ad hoc committee: Recommendations for the management of women with a genetic risk for developing cancer of the breast and/or the ovary. Bull Cancer 86(3): 307–13

    PubMed  CAS  Google Scholar 

  17. Lidereau R et al. (2000) Major improvement in the efficacy of BRCA1 mutation screening using morphoclinical features of breast cancer. Cancer Res 60(5): 1206–10

    PubMed  CAS  Google Scholar 

  18. Antoniou A et al. (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117–30

    Article  PubMed  CAS  Google Scholar 

  19. Narod SA et al. (1995) Risk modifiers in carriers of BRCA1 mutations. Int J Cancer 64(6): 394–8

    PubMed  CAS  Google Scholar 

  20. Thompson D, Easton D (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68(2): 410–9

    Article  PubMed  CAS  Google Scholar 

  21. BCLC (1999) Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91(15): 1310–6

    Article  Google Scholar 

  22. Thompson D, Easton DF (2002) Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94(18): 1358–65

    PubMed  CAS  Google Scholar 

  23. Chompret A et al. (2000) P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82(12): 1932–7

    Article  PubMed  Google Scholar 

  24. Bell DW et al. (1999) Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286(5449): 2528–31

    Article  PubMed  CAS  Google Scholar 

  25. Bougeard G et al. (2001) Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. J Med Genet 38(4): 253–7

    Article  PubMed  CAS  Google Scholar 

  26. Frebourg T et al. (2001) Li-Fraumeni syndrome: update, new data and guidelines for clinical management. Bull Cancer 88(6): 581–7

    PubMed  CAS  Google Scholar 

  27. Longy M (2001) Cowden disease and the PTEN gene: a successfully clinical and biological combined approach. Bull Cancer 88(12): 1153–8

    PubMed  CAS  Google Scholar 

  28. Lim W et al. (2003) Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 89(2): 308–13

    Article  PubMed  CAS  Google Scholar 

  29. Olschwang S, Boisson C, Thomas G (2001), Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. J Med Genet 38(6): 356–60

    Article  PubMed  CAS  Google Scholar 

  30. Geoffroy-Perez B et al. (2001) Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer, 2001. 93(2): p. 288–93

    Article  PubMed  CAS  Google Scholar 

  31. Dunning AM et al. (1999) A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev 8(10): 843–54

    PubMed  CAS  Google Scholar 

  32. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58, 209 women with breast cancer and 101, 986 women without the disease. 2001 Lancet 358(9291): 1389–99

    Google Scholar 

  33. Claus EB, Schwartz PE (1995) Familial ovarian cancer. Update and clinical applications. Cancer 76(10 Suppl): 1998–2003

    PubMed  CAS  Google Scholar 

  34. Claus EB et al. (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77(11): 2318–24

    Article  PubMed  CAS  Google Scholar 

  35. Claus EB, Risch N, Thompson WD (1994) Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 73(3):643–51

    PubMed  CAS  Google Scholar 

  36. Menegoz F, Cherie-Challine L (1999) Le Cancer en France: incidence et mortalité: ministère de l’Emploi et de la Solidarité

    Google Scholar 

  37. Gail MH, Greene MH (2000) Gail model and breast cancer. Lancet 355(9208): 1017

    Article  PubMed  CAS  Google Scholar 

  38. Ford D et al. (1994) Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 343(8899): 692–5

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Service de génétique, Institut Curie, 26, rue d’Ulm, 75248, Paris Cedex 05

    D. Stoppa-Lyonnet, M. Gauthier-Villars & I. Coupier

  2. Service de génétique, Service de chirurgie sénologique, Institut Curie, 26, rue d’Ulm, 75248, Paris Cedex 05

    P. This

  3. Inserm EMI 0006/Service de biostatistique, Institut Curie, 26, rue d’Ulm, 75248, Paris Cedex 05

    N. Andrieu

Authors
  1. D. Stoppa-Lyonnet
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  2. M. Gauthier-Villars
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  3. I. Coupier
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  4. P. This
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  5. N. Andrieu
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© 2006 Springer-Verlag France, Paris

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Stoppa-Lyonnet, D., Gauthier-Villars, M., Coupier, I., This, P., Andrieu, N. (2006). Diagnostic des patientes à risque de cancer du sein. In: Cancer du sein. Springer, Paris. https://doi.org/10.1007/2-287-31109-2_2

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  • DOI: https://doi.org/10.1007/2-287-31109-2_2

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-287-25174-0

  • Online ISBN: 978-2-287-31109-3

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