Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2000 Mar;37(3):203–209. doi: 10.1136/jmg.37.3.203

Guidelines for a genetic risk based approach to advising women with a family history of breast cancer

D Eccles 1, D Evans 1, J Mackay 1
PMCID: PMC1734545  PMID: 10699057

Abstract

A family history of breast cancer has long been recognised as a significant risk factor for breast cancer. Quantifying that risk has been approached in publications and practically in a number of different ways. Increasingly regional genetics departments are called upon to help clarify guidelines for referral of women with a family history of breast cancer for genetic testing and to clarify breast cancer risk for women seeking early mammographic screening. This paper represents the current consensus guidelines from the UK Cancer Family Study Group and discusses some of the difficulties surrounding genetic risk estimation.


Keywords: guidelines; genetic risk; breast cancer

Full Text

The Full Text of this article is available as a PDF (134.2 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Andrieu N., Demenais F. Interactions between genetic and reproductive factors in breast cancer risk in a French family sample. Am J Hum Genet. 1997 Sep;61(3):678–690. doi: 10.1086/515507. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Breast-cancer screening with mammography in women aged 40-49 years. Swedish Cancer Society and the Swedish National Board of Health and Welfare. Int J Cancer. 1996 Dec 11;68(6):693–699. doi: 10.1002/(SICI)1097-0215(19961211)68:6<693::AID-IJC1>3.0.CO;2-Z. [DOI] [PubMed] [Google Scholar]
  3. Brunet J. S., Ghadirian P., Rebbeck T. R., Lerman C., Garber J. E., Tonin P. N., Abrahamson J., Foulkes W. D., Daly M., Wagner-Costalas J. Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes. J Natl Cancer Inst. 1998 May 20;90(10):761–766. doi: 10.1093/jnci/90.10.761. [DOI] [PubMed] [Google Scholar]
  4. Claus E. B., Risch N., Thompson W. D. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994 Feb 1;73(3):643–651. doi: 10.1002/1097-0142(19940201)73:3<643::aid-cncr2820730323>3.0.co;2-5. [DOI] [PubMed] [Google Scholar]
  5. Claus E. B., Schildkraut J., Iversen E. S., Jr, Berry D., Parmigiani G. Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history. J Natl Cancer Inst. 1998 Dec 2;90(23):1824–1829. doi: 10.1093/jnci/90.23.1824. [DOI] [PubMed] [Google Scholar]
  6. Couch F. J., DeShano M. L., Blackwood M. A., Calzone K., Stopfer J., Campeau L., Ganguly A., Rebbeck T., Weber B. L. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997 May 15;336(20):1409–1415. doi: 10.1056/NEJM199705153362002. [DOI] [PubMed] [Google Scholar]
  7. Duffy S. W., Chen H. H., Tabar L., Fagerberg G., Paci E. Sojourn time, sensitivity and positive predictive value of mammography screening for breast cancer in women aged 40-49. Int J Epidemiol. 1996 Dec;25(6):1139–1145. doi: 10.1093/ije/25.6.1139. [DOI] [PubMed] [Google Scholar]
  8. Eccles D. M., Englefield P., Soulby M. A., Campbell I. G. BRCA1 mutations in southern England. Br J Cancer. 1998 Jun;77(12):2199–2203. doi: 10.1038/bjc.1998.366. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Eccles D., Marlow A., Royle G., Collins A., Morton N. E. Genetic epidemiology of early onset breast cancer. J Med Genet. 1994 Dec;31(12):944–949. doi: 10.1136/jmg.31.12.944. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Evans D. G., Burnell L. D., Hopwood P., Howell A. Perception of risk in women with a family history of breast cancer. Br J Cancer. 1993 Mar;67(3):612–614. doi: 10.1038/bjc.1993.112. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. FitzGerald M. G., MacDonald D. J., Krainer M., Hoover I., O'Neil E., Unsal H., Silva-Arrieto S., Finkelstein D. M., Beer-Romero P., Englert C. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med. 1996 Jan 18;334(3):143–149. doi: 10.1056/NEJM199601183340302. [DOI] [PubMed] [Google Scholar]
  12. Fletcher S. W., Fletcher R. H. Development of clinical guidelines. Lancet. 1998 Dec 12;352(9144):1876–1876. doi: 10.1016/S0140-6736(05)60393-5. [DOI] [PubMed] [Google Scholar]
  13. Ford D., Easton D. F., Bishop D. T., Narod S. A., Goldgar D. E. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 Mar 19;343(8899):692–695. doi: 10.1016/s0140-6736(94)91578-4. [DOI] [PubMed] [Google Scholar]
  14. Hendrick R. E., Smith R. A., Rutledge J. H., 3rd, Smart C. R. Benefit of screening mammography in women aged 40-49: a new meta-analysis of randomized controlled trials. J Natl Cancer Inst Monogr. 1997;(22):87–92. doi: 10.1093/jncimono/1997.22.87. [DOI] [PubMed] [Google Scholar]
  15. Hopwood P., Keeling F., Long A., Pool C., Evans G., Howell A. Psychological support needs for women at high genetic risk of breast cancer: some preliminary indicators. Psychooncology. 1998 Sep-Oct;7(5):402–412. doi: 10.1002/(SICI)1099-1611(1998090)7:5<402::AID-PON317>3.0.CO;2-X. [DOI] [PubMed] [Google Scholar]
  16. Kollias J., Sibbering D. M., Blamey R. W., Holland P. A., Obuszko Z., Wilson A. R., Evans A. J., Ellis I. O., Elston C. W. Screening women aged less than 50 years with a family history of breast cancer. Eur J Cancer. 1998 May;34(6):878–883. doi: 10.1016/s0959-8049(97)00365-1. [DOI] [PubMed] [Google Scholar]
  17. Lalloo F., Boggis C. R., Evans D. G., Shenton A., Threlfall A. G., Howell A. Screening by mammography, women with a family history of breast cancer. Eur J Cancer. 1998 May;34(6):937–940. doi: 10.1016/s0959-8049(98)00005-7. [DOI] [PubMed] [Google Scholar]
  18. Lalloo F., Cochrane S., Bulman B., Varley J., Elles R., Howell A., Evans D. G. An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews. J Med Genet. 1998 Jan;35(1):10–12. doi: 10.1136/jmg.35.1.10. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Lloyd S., Watson M., Waites B., Meyer L., Eeles R., Ebbs S., Tylee A. Familial breast cancer: a controlled study of risk perception, psychological morbidity and health beliefs in women attending for genetic counselling. Br J Cancer. 1996 Aug;74(3):482–487. doi: 10.1038/bjc.1996.387. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Ottman R., Pike M. C., King M. C., Henderson B. E. Practical guide for estimating risk for familial breast cancer. Lancet. 1983 Sep 3;2(8349):556–558. doi: 10.1016/s0140-6736(83)90580-9. [DOI] [PubMed] [Google Scholar]
  21. Parmigiani G., Berry D., Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998 Jan;62(1):145–158. doi: 10.1086/301670. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Peshkin B. N., Lerman C. Genetic counselling for hereditary breast cancer. Lancet. 1999 Jun 26;353(9171):2176–2177. doi: 10.1016/S0140-6736(99)90078-8. [DOI] [PubMed] [Google Scholar]
  23. Powles T. J. Status of antiestrogen breast cancer prevention trials. Oncology (Williston Park) 1998 Mar;12(3 Suppl 5):28–31. [PubMed] [Google Scholar]
  24. Serova O. M., Mazoyer S., Puget N., Dubois V., Tonin P., Shugart Y. Y., Goldgar D., Narod S. A., Lynch H. T., Lenoir G. M. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet. 1997 Mar;60(3):486–495. [PMC free article] [PubMed] [Google Scholar]
  25. Spiegelman D., Colditz G. A., Hunter D., Hertzmark E. Validation of the Gail et al. model for predicting individual breast cancer risk. J Natl Cancer Inst. 1994 Apr 20;86(8):600–607. doi: 10.1093/jnci/86.8.600. [DOI] [PubMed] [Google Scholar]
  26. Struewing J. P., Abeliovich D., Peretz T., Avishai N., Kaback M. M., Collins F. S., Brody L. C. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995 Oct;11(2):198–200. doi: 10.1038/ng1095-198. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES