"A Population Based Study of Familial Breast Cancer in East Anglia"

Research objectives


To assess the population significance of the breast cancer susceptibility genes BRCA1 and BRCA2 as a cause of breast cancer and to identify gene-gene and gene-environment interactions that may be important modifiers of risks.


Estimate the proportion of breast cancer cases that occur in women in different categories of risk according to family history and age. This will then enable the research team to estimate the proportion of unaffected women in the general population in these family history categories (from published data on relative risk).
Estimate the proportion of cases in different family history risk categories that have mutations in BRCA1 and BRCA2 and subsequently other strongly predisposing genes. This will indicate the attributable risks from each gene and the likely yield of genetic testing in cases or their relatives by category of family history or age.
By case control comparison using the European Prospective Investigation of Cancer samples as controls, estimate the population prevalence, relative and attributable risks associated with common low penetrance genes that might be identified in the near future, including putative low risk alleles of BRCA1 and BRCA2.
By relating family history data to results from the regional breast screening programme, assess the interaction between family history and the results of screening in women over 50 years of age.


Pharoah PDP, Day NE, Duffy S, Easton DF, and Ponder BAJ. Family history and the risk of breast cancer: A systematic review and meta-analysis. Int J Cancer 1997;71:800-809 

Dunning AM, Healey CS, Pharoah PDP, Foster N, Lipscombe JM, Redman KL, Easton DF, Day N, and Ponder B. No association between a polymorphism in the steroid metabolism gene CYP17 and risk of breast cancer. Brit J Cancer 1998;77(11):2045-2047

Conference presentations

Pharoah PDP, Gayther SA, Easton DF, Day NE, and Ponder BAJ. Mutation analysis of the BRCA1 and BRCA2 genes in a population based series of breast cancer cases using a semi-automated multiplex heteroduplex analysis. Mutation Detection '97. Brno, Czech Republic (1997)

Pharoah PDP, Day NE, Duffy S, Easton DF, and Ponder BAJ. Family history and the risk of breast cancer. Basic and clinical aspects of breast cancer. American Association for Cancer Research. Keystone, Colorado (1997)

Further information may be obtained from:

Professor Bruce Ponder
Director, Cancer Research UK Human Clinical Oncology Research Group
Department of Clinical Oncology
University of Cambridge Medical School
Oncology Centre (Box 193)
Addenbrooke's Hospital
Hills Road
Cambridge, CB2 2QQ

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Last updated 22 November 2004
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