Genetic Risk


Risk assessment of adverse genetic outcomes involves complex decision‐making procedures. Human values and expert judgments of various kinds, as well as scientific and/or mathematical knowledge and technological hardware, are all implicated in the assessment process.

Keywords: cancer; population genetics; referral criteria; risk; uncertainty


Armstrong K, Essen A and Weber B (2000) Assessing the risk of breast cancer. New England Journal of Medicine 342(8): 564–571.

Claus EB, Risch N and Thompson WD (1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. American Journal of Human Genetics 48: 232–242.

Eccles DM, Evans DGR and Mackay J (2000) Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. Journal of Medical Genetics 37: 203–209.

Evans JP, Skrzynia C and Burke W (2001) The complexities of predictive genetic testing. British Medical Journal 322: 1052–1056.

McPherson K, Steel CM and Dixon JM (2000) Breast cancer – epidemiology, risk factors, and genetics. British Medical Journal 321: 624–628.

Prior L (2001) Rationing through risk assessment in clinical genetics. Sociology of Health and Illness 23(5): 570–593.

Skolbekken J‐A (1995) The risk epidemic in medical journals. Social Science and Medicine 40: 291–305.

Spiegelman D, Colditz GA, Hunter D, et al. (1994) Validation of the Gail et al. model for predicting individual breast cancer risk. Journal of the National Cancer Institute 86: 600–608.

Tischkowitz M, Wheeler D, France E, et al. (2000) A comparison of methods currently used in clinical practice to estimate familial breast cancer risks. Annals of Oncology 11(4): 451–454.

Vasen HFA, Mecklin J‐P, Merakhan P and Lynch HT (1991) The international collaborative group on hereditary non‐polyposis colorectal cancer. Diseases of the Colon and Rectum 34: 424–425.

Further Reading

Chapman CJ (1997) Cyrillic for Pedigree Drawing. Oxford, UK: Cherwell Scientific Publishing.

Edwards A, Hood K, Mathews E, et al. (2000) The effectiveness of one‐to‐one risk‐communication interventions in health care. A systematic review. Medical Decision Making 20: 290–297.

House of Commons Select Committee on Science and Technology. (2001) Fifth Report. London, UK: Her Majesty's Stationery Office.

Pharoah PD, Stratton JF and Mackay J (1998) Screening for breast and ovarian cancer: the relevance of family history. British Medical Bulletin 54: 823–838.

Unwin N, Carr S, Leeson J and Pless‐Mulloli T (1997) An Introductory Study Guide to Public Health and Epidemiology Buckingham, UK: Open University Press.

Web Links

Genetic Health

Apolipoprotein E (APOE). LocusID: 348. LocusLink:

Breast cancer 1, early onset (BRCA1). LocusID: 672. LocusLink:

Breast cancer 2, early onset (BRCA2). LocusID: 675. LocusLink:

Apolipoprotein E (APOE). MIM number: 107741. OMIM:‐post/Omim/dispmim?107741

Breast cancer 1, early onset (BRCA1). MIM number: 113705. OMIM:‐post/Omim/dispmim?113705

Breast cancer 2, early onset (BRCA2). MIM number: 600185. OMIM:‐post/Omim/dispmim?600185

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Prior, Lindsay(Sep 2006) Genetic Risk. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005618]