The BRCA1 gene in sporadic breast and ovarian cancer

  • D. M. Black
  • E. Solomon


The majority of cases of breast and ovarian cancer appear to be sporadic; that is, they arise without a clear genetic susceptibihty because the cases lack an obvious inherited component. However, there are some families in which there are several affected individuals, indicating either a clustering of sporadic cases or an inherited genetic effect. In other, rarer families, there is a clear inherited susceptibility to either breast or ovarian cancer which can be traced through consecutive generations. In these families the disease usually occurs at an early age and often bilaterally. Interestingly, the risk of ovarian cancer is increased in relatives of women with breast cancer and vice versa. This observation suggests the existence of one or more genes which predispose to both breast and ovarian cancer [1].


Breast Cancer Ovarian Cancer BRCAI Gene Sporadic Breast Cancer BRCAI Locus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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  1. 1.
    Lynch, HT., Watson, P., Conway, T.A. and Lynch, J.F. (1992) Natural history and age at onset of hereditary breast cancer. Cancer, 69, 1404–7.PubMedCrossRefGoogle Scholar
  2. 2.
    Newman, B., Austin, M.A., Lee, M. and King, M-C. (1988) Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families Proc. Natl. Acad. Sci. USA, 85, 3044–8.PubMedCrossRefGoogle Scholar
  3. 3.
    Claus, E.B., Risch, N.J. and Thompson, W.D. (1990) Age at onset as an indicator of familial risk of breast cancer. Am. J. Epidemiol., 131, 961–72.PubMedGoogle Scholar
  4. 4.
    Claus, E.B., Risch, N.J. and Thompson, W.D. (1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. Am. J. Hum. Genet., 48, 232–42.PubMedGoogle Scholar
  5. 5.
    Hall, J.M., Lee, M.K., Newman, B. et al., (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 250,1684–9.PubMedCrossRefGoogle Scholar
  6. 6.
    Narod, S.A., Feunteun, J., Lynch, H.T. et al., (1991) Familial breast-ovarian cancer locus on chromosome 17ql2-q23. Lancet, 338, 82–3.PubMedCrossRefGoogle Scholar
  7. 7.
    Faston, D.F., Bishop, D.T., Ford, D. and Cockford, G.P. (1993) Genetic linkage analysis in familial breast and ovarian cancer. Results from 214 families. Am. J. Hum. Genet., 52, 678–701.Google Scholar
  8. 8.
    Bowcock, A.M., Anderson, L.A., Black, D.M. et al., (1993) THRAl and D17S183 flank an interval of 4 cM for the breast-ovarian cancer gene (BRCAl) on chromosome 17q21. Am. J. Hum. Genet., 52, 718–21.PubMedGoogle Scholar
  9. 9.
    Goldgar, D.E., Cannon-Albright, L.A., Oliphant, A. et al., (1993) Chromosome 17q linkage studies of 18 Utah breast cancer kindreds. Am. J. Hum. Genet., 52, 743–8.PubMedGoogle Scholar
  10. 10.
    Knudson, A.G. and Strong, L.C. (1972) Mutation and cancer: a model for Wilms’ tumor of the kidney, J. Natl Cancer Inst., 48,313–24.PubMedGoogle Scholar
  11. 11.
    Ponder, B.A.J. (1990) Inherited predisposition to cancer.Trends Genet., 6,213–18.PubMedCrossRefGoogle Scholar
  12. 12.
    Sato, T., Tanigami, A., Yamakawa, K. et al., (1990) Allelotype of breast cancer: cumulative allele losses promote tumor progression in primary breast cancer. Cancer Res., 50, 7184–9.PubMedGoogle Scholar
  13. 13.
    Futreal, P.A., Soderkvist, P., Marks, J.R. et al., (1992) Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms. Cancer Res., 52,2624–7.PubMedGoogle Scholar
  14. 14.
    Foulkes, W.D., Black, D.M., Stamp, G.W.H. et al., (1993) Very frequent loss of heterozygosity throughout chromosome 17 in sporadic ovarian carcinoma. Int. J. Cancer, 54, 220–5.PubMedCrossRefGoogle Scholar
  15. 15.
    Foulkes, W.D., Black, D.M., Solomon, F., and Trowsdale, J. (1991) Allele loss on chromosome 17q in sporadic ovarian cancer. Lancet, 338, 444–5.PubMedCrossRefGoogle Scholar
  16. 16.
    Marshall, C.J. (1991) Tumor suppressor genes. Cell, 64, 313–26.PubMedCrossRefGoogle Scholar
  17. 17.
    Sato, T., Saito, H., Swenson, H. et al., (1992) The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer. Cancer Res., 52,1643–6.PubMedGoogle Scholar
  18. 18.
    Smith, S.A., Faston, D.F., Fvans, D.G.R. and Ponder, B.A.J. (1992) Chromosome 17 allele loss in familial ovarian cancer. Nature Genet., 2,128–31.PubMedCrossRefGoogle Scholar
  19. 19.
    Fearon, E.R., Cho, K.R., Nigro, J.M. et al, (1990) Identification of a chromosome 18q gene that is altered in colorectal cancers.Science, 247, 49–56.PubMedCrossRefGoogle Scholar
  20. 20.
    Cawthon, R.M., Weiss, R., Xu, G.F. et al, (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure and point mutations. Cell, 62,193–201.PubMedCrossRefGoogle Scholar
  21. 21.
    Wallace, M.R., Marchuk, D.A., Anderson, L.B. et al., (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NFl patients. Science, 249,181–6.PubMedCrossRefGoogle Scholar
  22. 22.
    Wicking, C. and Williamson, B. (1991) From linked marker to gene. Trends Genet., 7, 288–92.PubMedGoogle Scholar
  23. 23.
    Tulinius, H., Egilsson, V., Olafsdottir, G. and Sigvaldson, H. (1992) Risk of prostate, ovarian and endometrial cancer among relatives of women with breast cancer. Lancet, 305, 855–7.Google Scholar

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© Chapman & Hall 1995

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  • D. M. Black
  • E. Solomon

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