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Research used to inform this section of the website

Evidence for this website has been drawn from official statistics and documents as well as scientific papers. Those used are shown below.

Breast cancer and family history

Statistics on the number of women who develop breast cancer come from:

The association between a family history and developing breast cancer is discussed in:

  • Emery, J., Lucassen, A. and Murphy, M. (2001) Common hereditary cancers and implications for primary care. Lancet 358; 56-63.

Estimates of how many breast cancer cases are due to a family history can be found in:

  • Claus, E. B., Schildkraut, J. M., Thompson, W. D. et al. (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77; 2318-2324.
  • Slattery, M. L. and Kerber, R. A. (1993) A comprehensive evaluation of family history and breast cancer risk: the Utah Population Database. Journal of the American Medical Association 270; 1563-1568.
  • Colditz, G. A., Willet, W. C., Hunter, D. J. et al. (1993) Family history, age, and risk of breast cancer. Journal of the American Medical Association 270; 338-343.

Figures for the percentage of the population who may be at an increased risk of developing breast cancer on the basis of their family history are from:

BRCA1 and BRCA2 mutations

The number of people with a strong family history likely to have a mutation in BRCA1 or BRCA2 is described in:

  • Ford, D., Easton, D. F., Stratton, M. et al. (1998) The Breast Cancer Linkage Consortium: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. American Journal of Human Genetics 62; 676-689.

The results of a number of groups is combined in this analysis to give the best estimate currently available for the risks of developing breast or ovarian cancer if you have a BRCA gene mutation.

  • Antoniou, A., Pharoah, P. D. P., Narod, S. 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. American Journal of Human Genetics 72; 1117-1130.

The link between breast, ovarian and other cancers in BRCA1 mutation carriers is described in:

  • Gayther, S. A., Warren, W., Mazoyer, S. et al. (1995) Germline mutations of the BRCA1 breast cancer gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nature Genetics 11; 428-433.
  • Thompson, D. and Easton, D. F. (2002) Cancer incidence
    in BRCA1 mutation carriers. Journal of the National Cancer Institute 94; 1358-1365.

The link between breast, prostate and other cancers in families with BRCA2 mutations is described in:

  • Edwards, S. M., Kote-Jarai, Z., Meitz, J. et al. (2003) Two percent of men with early onset prostate cancer harbour germline mutations in the BRCA2 gene. American Journal of Human Genetics 72; 1-12.
  • Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. Journal of the National Cancer Institute 91; 1310-1316.

These papers give evidence of the frequency of common mutations in the BRCA genes in Ashkenazi Jews:

  • Tonin, P., Weber, B., Offit, K. et al. (1996) Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nature Medicine 2; 1179-1183.
  • Hartge, P., Struewing, J. P., Wacholder, S. et al. (1999) The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. American Journal of Human Genetics 64; 963-970.


Other hereditary diseases that can cause breast cancer

An overview of the other hereditary diseases that can result in a high incidence of breast cancer is given in:

  • de Jong, M. M., Nolte, I. M., te Meerman, G. J. et al. (2002) Genes other than BRCAI and BRCA2 involved in breast cancer susceptibility. Journal of Medical Genetics 39; 225-242.

Li-Fraumeni syndrome


  • Malkin, D., Li, F. P., Strong, L. C. et al. (1990) Germline p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250; 1233-1238.
  • Hisada, M., Garber, J. E., Fung, C. Y. et al. (1998) Multiple primary cancers in families with Li-Fraumeni syndrome. Journal of the National Cancer Institute 90; 606-611.

Cowden syndrome

  • Liaw, D., Marsh, D. J., Li, J. et al. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genetics 16; 64-67.
  • Eng, C. (2000) Will the real Cowden syndrome please stand up:revised diagnostic criteria. Journal of Medical Genetics 37; 828-830.

Peutz-Jeghers syndrome

  • Hemminki, A., Tomlinson, I., Markie, D. et al. (1997) Localisation of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridisation and targeted linkage analysis. Nature Genetics 15; 87-90.
  • Giardello, F. M., Welsh, S. B., Hamilton, S. R. et al. (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. New England Journal of Medicine 316; 1511-1514.

Ataxia-Telangiectasia
  • Savitsky, K., Bar-Shira, A., Gilad, S. et al. (1995) A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 268; 1749-1753.
  • Shiloh, Y. (1995) Ataxia-telangiectasia: Closer to unravelling the mystery. European Journal of Human Genetics 3; 116-138.

Screening

Evidence about mammography and the age range over which it is effective is documented in:

  • de Koning, H. J. (2003) Mammographic screening: evidence from randomised controlled trials. Annals of Oncology 14; 1185-1189.
  • Law, J. and Faulkner, K. (2001) Cancers detected and induced, and associated risk and benefit, in a breast screening programme. British Journal of Radiology 74; 1121-1127.

Evidence that MRI may be beneficial in younger women with dense breasts and an increased risk of developing breast cancer compared to the general population is given in:

  • Kuhl, C. K., Schmutzler, R. K., Leutner, C. C. et al. (2000) Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: Preliminary results. Radiology 215; 267-279.
  • Stoutjesdijk, M. J., Boetes, C., Jager, G. J. et al. (2001) Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. Journal of the National Cancer Institute 93; 1095-1102.
  • Tilanus-Linthorst, M. M., Obdeijn, I. M., Bartels, K. C. et al. (2000) First experiences in screening women at high risk for breast cancer with MR imaging. Breast Cancer Research and Treatment 63; 53-60.
  • Warner, E., Plewes, D. B., Shumak, R. S. et al. (2001) Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer. Journal of Clinical Oncology 19; 3524-3531.

Genetic tests

The number of genetic tests that find no mutation in the BRCA1 or BRCA2 genes is taken from:

Risk-reducing surgery

Studies on the effectiveness of prophylactic surgery in reducing the risk of developing breast and/or ovarian cancer is described in:

  • Hartmann, L. C., Schaid, D. J., Woods, J. E. et al. (1999) Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. New England Journal of Medicine 340; 77-84.
  • Rebbeck, T. R., Friebel, T., Lynch, H. T. et al. (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. Journal of Clinical Oncology 22; 1055-1062.
  • Rebbeck, T. R., Levin, A. M., Eisen, A. et al. (1999) Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. Journal of the National Cancer Institute 91; 1475-1479.
  • Rebbeck, T. R., Lynch, H. T., Neuhausen, S. L. et al. (2002) Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. New England Journal of Medicine 346; 1616-1622.


Genetic testing and employment


The Data Protection Act of 1998 legally guides practice in the UK. An Information Commissioner is responsible for promoting good practice and to this end issues codes of practice. The latest of these is 'Part 4: Information about Workers' Health'. This is in draft form at present and is due to be published in July 2004. Section 3.5 focuses on genetic test results and makes a number of recommendations including:

  • Do not use genetic testing in an effort to make predictions about a worker's future general health.
  • Do not require a worker to disclose the results of a previous genetic test.

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