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Hereditary Breast Cancer

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Breast Cancer

Part of the book series: M.D. Anderson Solid Tumor Oncology Series ((MDA))

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Abstract

The clustering of breast cancers in family members has been known since Roman times. This observation has been given added clinical significance with the discovery of a family of breast cancer genes, BRCA1 and BRCA2. The BRCA1 gene is the first adult-onset cancer gene mapped to a single gene locus. Certain inherited mutations in either of these genes greatly increase a patient’s lifetime risk of breast and other cancers. These landmark discoveries are already having an impact on clinical care and have raised ethical, social, and medical issues, many of which are unprecedented. In many ways, the discovery of the genes predated our ability to deal with complex issues surrounding access to testing, informed consent, and interventions. This problem is compounded by the magnitude of the breast cancer epidemic. The cumulative lifetime risk of developing breast cancer for women in the United States is 12.6%, or one in eight women. There are 184,300 new breast cancer cases diagnosed annually in the United States and 44,300 deaths.1

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References

  1. Cancer Facts and Figures. Atlanta: American Cancer Society, 1995;10–11.

    Google Scholar 

  2. Newman B, Austin MA, Lee M, et al. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci USA 1988;85:3044–3048.

    Article  PubMed  CAS  Google Scholar 

  3. King M-C, Rowell SE, Love SM. Inherited breast and ovarian cancer: what are the risks? What are the choices? JAMA 1993;269:1975–1980.

    Article  PubMed  CAS  Google Scholar 

  4. Traite des Tumeurs, Vol. 1. Paris: P. Asselin, 1886–1889.

    Google Scholar 

  5. Martynova RP. On the genetics of breast cancer in women. Proc Maxim Gorky Res Inst 1936;4:159.

    Google Scholar 

  6. Anderson DE. Some characteristics of familial breast cancer. Cancer 1971;28:1500.

    Article  PubMed  CAS  Google Scholar 

  7. Ottman R, Pike MC, King M-C, et al. Familial breast cancer in a population-based series. Am J Epidemiol 1986;123:15–21.

    PubMed  CAS  Google Scholar 

  8. Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820–823.

    Article  PubMed  Google Scholar 

  9. Fearon ER, Vogelstein BA. Genetic model for colorectal tumorigenesis. Cell 1990;61:759–767.

    Article  PubMed  CAS  Google Scholar 

  10. Deng G, Lu Y, Zlotnikov G, et al. Loss of heterozygosity in normal tissue adjacent to breast carcinomas. Science 1996;274:2057–2059.

    Article  PubMed  CAS  Google Scholar 

  11. Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990;250:1684–1689.

    Article  PubMed  CAS  Google Scholar 

  12. 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.

    Article  PubMed  CAS  Google Scholar 

  13. 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.

    Article  PubMed  CAS  Google Scholar 

  14. 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.

    Article  PubMed  CAS  Google Scholar 

  15. Nelen MR, Padberg GW, Peeters EAJ, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996;13:114–116.

    Article  PubMed  CAS  Google Scholar 

  16. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401–1408.

    Article  PubMed  CAS  Google Scholar 

  17. Ford D, Easton DF. The genetics of breast and ovarian cancer. Br J Cancer 1995;72:805–812.

    Article  PubMed  CAS  Google Scholar 

  18. Narod S, Ford D, Devilee P, et al. Genetic heterogeneity of breast-ovarian cancer revisited. Am J Hum Genet 1995;57:957–958.

    PubMed  CAS  Google Scholar 

  19. Phelan CM, Lancaster JM, Tonin P, et al. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996;13:120–122.

    Article  PubMed  CAS  Google Scholar 

  20. Serova OM, Mazoter S, Puget N, et al. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet 1997;60:486–495.

    PubMed  CAS  Google Scholar 

  21. Ramus SJ, Friedman SA, Gayther SA, et al. A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2. Nat Genet 1997;15:14–15.

    Article  PubMed  CAS  Google Scholar 

  22. Collins FS. BRCA1—lots of mutations, lots of dilemmas. N Engl J Med 1996;334:186–188.

    Article  PubMed  CAS  Google Scholar 

  23. Fitzgerald MG, MacDonald DJ, Krainer M, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 1996;334:143–149.

    Article  PubMed  CAS  Google Scholar 

  24. Struewing JP, Abeliovich D, Peretz T, et al. The carrier frequency of the BRCA1 185delAG mutation in approximately 1 percent of Ashkenazi Jewish individuals. Nat Genet 1995;11:198–200.

    Article  PubMed  CAS  Google Scholar 

  25. Offit K, Gilewski T, McGuire P, et al. Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet 1996;347:1643–1644.

    Article  PubMed  CAS  Google Scholar 

  26. Abeliovich D, Kaduri L, Lerer I, et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60 percent of ovarian cancer and 30 percent of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997;60:505–514.

    PubMed  CAS  Google Scholar 

  27. Heimlich SP, Shapiro S, Rosenberg L, et al. Risk factors for breast cancer. Am J Epidemiol 1983;117:35–45.

    Google Scholar 

  28. Egan KM, Newcomb PA, Longnecker MP, et al. Jewish religion and risk of breast cancer. Lancet 1996;347:1645–1646.

    Article  PubMed  CAS  Google Scholar 

  29. 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.

    PubMed  CAS  Google Scholar 

  30. Ford D, Easton DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 1995;57:1457–1462.

    PubMed  CAS  Google Scholar 

  31. Gayther S, 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.

    Article  PubMed  CAS  Google Scholar 

  32. Neuhausen SL, Mazoyer S, Freidman L, et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 1996;58:271–280.

    PubMed  CAS  Google Scholar 

  33. Jensen RA, Thompson ME, Jetton TL, et al. BRCA1 is secreted and exhibits properties of a granin. Nat Genet 1996;12:303–308.

    Article  PubMed  CAS  Google Scholar 

  34. Scully R, Chen J, Plug A, et al. Association of BRCA1 with RAD51 in mitotic and meiotic cells. Cell 1997;88:265–275.

    Article  PubMed  CAS  Google Scholar 

  35. Sharan SK, Morimatsu M, Albrecht U, et al. Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking BRCA2. Nature 1997;386:804–810.

    Article  PubMed  CAS  Google Scholar 

  36. Scully R, Ganesan S, Brown M, et al. Location of BRCA1 in human breast and ovarian cancer cells. Science 1996;272:123–126.

    Article  PubMed  CAS  Google Scholar 

  37. Holt JT, Thompson ME, Szabo C, et al. Growth retardation and tumor inhibition by BRCA1. Nat Genet 1996;12:298–302.

    Article  PubMed  CAS  Google Scholar 

  38. Spillman MA, Bowcock AM. BRCA1 and BRCA2 mRNA levels are coordinately elevated in human breast cancer cells in response to estrogen. Oncogene 1996;13:1639–1645.

    PubMed  CAS  Google Scholar 

  39. Gowen LC, Johnson BL, Latour AM, et al. BRCA1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nat Genet 1996;12:191–194.

    Article  PubMed  CAS  Google Scholar 

  40. Boyd M, Harris F, McFarlene R, et al. A human BRCA1 gene knockout [letter]. Nature 1995;375:541–542.

    Article  PubMed  CAS  Google Scholar 

  41. 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.

    PubMed  CAS  Google Scholar 

  42. Marcus JN, Watson P, Page DL, et al. Hereditary breast cancer: pathobiology, prognosis and BRCA1 and BRCA2 linkage. Cancer 1996;77:697–709.

    Article  PubMed  CAS  Google Scholar 

  43. Sun CC, Lenoir G, Lynch H, et al. In-situ breast cancer and BRCA1 [letter]. Lancet 1996;348:408.

    Article  PubMed  CAS  Google Scholar 

  44. Rubin SC, Benjamin I, Behbakht K, et al. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med 1996;335:1413–1416.

    Article  PubMed  CAS  Google Scholar 

  45. Couch FJ, Farid LM, DeShano ML, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 1996;13:123–125.

    Article  PubMed  CAS  Google Scholar 

  46. Gayther SA, Mangion J, Russell P, et al. Variations of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet 1997;15:103–105.

    Article  PubMed  CAS  Google Scholar 

  47. Neuhausen S, Gilewski T, Norton L, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 1996;13:126–128.

    Article  PubMed  CAS  Google Scholar 

  48. Oddoux C, Struewing JP, Clayton CM, et al. The carrier frequency of the BRCA2 617delT mutation among Ashkenazi Jewish individuals is approximately 1 percent. Nat Genet 1996;14:188–190.

    Article  PubMed  CAS  Google Scholar 

  49. 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.

    Article  PubMed  CAS  Google Scholar 

  50. Weber BH, Brohm M, Stec I, et al. A somatic truncating mutation in BRCA2 in a sporadic breast tumor. Am J Hum Genet 1996;59:962–964.

    PubMed  CAS  Google Scholar 

  51. Smigel K. Breast cancer prevention trial takes off. J Natl Cancer Inst 1992;84:669–670.

    Article  PubMed  CAS  Google Scholar 

  52. Goodnight JE Jr, Quagliana JM, Morton DL. Failure of subcutaneous mastectomy to prevent the development of breast cancer. J Surg Oncol 1984;26:198–201.

    Article  PubMed  Google Scholar 

  53. Wong JH, Jackson CF, Swanson JS, et al. Analysis of the risk reduction of prophylactic partial mastectomy in Sprague-Dawley rats with 7,12- dimethylbenzanthracene-induced breast cancer. Surgery 1986;99:67–71.

    PubMed  CAS  Google Scholar 

  54. Burke W, Daly M, Garber J, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. JAMA 1997;277:997–1003.

    Article  PubMed  CAS  Google Scholar 

  55. Petty EM, Killeen AA. BRCA1 mutation testing:controversies and challenges. Clin Chem 1997;43:6–8.

    PubMed  CAS  Google Scholar 

  56. Stern HJ, Maddalena A, Schulman JD. Pitfalls of genetic testing. N Engl J Med 1996;335:1235.

    Article  PubMed  CAS  Google Scholar 

  57. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility. J Clin Oncol 1996;14:1730–1736.

    Google Scholar 

  58. National Advisory Council for Genome Research. Statement on the use of DNA testing for presymptomatic identification of cancer risk. JAMA 1994;271:785.

    Article  Google Scholar 

  59. Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am J Hum Genet 1994;55:i–iv.

    Google Scholar 

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Whooley, B.P., Borgen, P.I. (1999). Hereditary Breast Cancer. In: Singletary, S.E. (eds) Breast Cancer. M.D. Anderson Solid Tumor Oncology Series. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-2146-3_18

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  • DOI: https://doi.org/10.1007/978-1-4612-2146-3_18

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4612-7432-2

  • Online ISBN: 978-1-4612-2146-3

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