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PMID: 15381934 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

The BOADICEA model of genetic susceptibility to breast and ovarian cancer.

British journal of cancer ·Vol. 91 ·No. 8 ·2004-10-18 ·Pages 1580-90

Antoniou AC, Pharoah PP, Smith P, Easton DF

Abstract

Several genes conferring susceptibility to breast and ovarian cancer, notably BRCA1 and BRCA2, have been identified. The majority of the familial aggregation of breast cancer is, however, not explained by these genes. We have previously derived, using segregation analysis, a susceptibility model (BOADICEA, Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) in which susceptibility to these genes is explained by mutations in BRCA1 and BRCA2 together with a polygenic component reflecting the joint multiplicative effect of multiple genes of small effect on breast cancer risk. Here, we consider the predictions made by this model. The overall familial risks of breast cancer predicted by this model are close to those observed in epidemiological studies. The predicted prevalences of BRCA1 and BRCA2 mutations among unselected cases of breast and ovarian cancer are also consistent with observations from population-based studies. These predictions are closer to the observed values than those obtained using the Claus model and BRCAPRO. The predicted mutation probabilities and cancer risks in individuals with a family history (FH) can differ markedly from those predicted by other models. We conclude that this model provides a rational basis for risk assessment in individuals with a FH of breast or ovarian cancer.

MeSH Terms
Adult Age Distribution Aged Breast Neoplasms/epidemiology,genetics,prevention & control Decision Making, Computer-Assisted Female Genes, BRCA1 Genes, BRCA2 Genetic Carrier Screening Genetic Predisposition to Disease/epidemiology Genetic Testing Humans Male Middle Aged Ovarian Neoplasms/epidemiology,genetics,prevention & control Pedigree
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Antoniou A C
Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, Cambridge CB1 8RN, UK.
Pharoah P P D
Smith P
Easton D F
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Article Info
Journal
British journal of cancer
Abbr.
Br J Cancer
ISSN
0007-0920
DOI
10.1038/sj.bjc.6602175
Published
2004-10-18
Pages
1580-90
Language
English
Region
England
NLM ID
0370635
PMCID
PMC2409934
Subset
IM
Corrections
CommentIn
PMID: 15785743
External Links
PubMed source DOI: 10.1038/sj.bjc.6602175 PMC Full Text View journal details
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