|
Research
objectives
PURPOSE
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.
AIMS
¤ |
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. |
Publications
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
UK
|