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2006, 8(Suppl 2):S1 (DOI 10.1186/bcr1544)Background Epidemiological studies have shown that only about 20%of the familial clustering of breast cancer is explained by the knownhighly penetrant mutations in BRCA1 and BCRA2. We have set out tosearch for the genes for the remaining 80%. Twin studies indicate apredominant role of shared genes rather than a shared environment;the patterns of occurrence of breast cancer in families are consistentwith a major polygenic component.Methods We have assembled a population based set of 5,000 breastcancer cases and 5,000 controls from the East Anglian population. Wehave simple clinical and epidemiological information, including familyhistory, and samples of blood and paraffin embedded tumour.We have used association studies based on single nucleotidepolymorphisms, first with candidate genes and then in a genome-widescan of 266,000 single nucleotide polymorphisms, to search for theputative predisposing genes. We have as yet searched only forcommon variants (frequency >5%).Results We have modelled the effects of polygenic predisposition inthe East Anglian population, and have shown that the model predicts awide distribution of individual risk in the population, such that half of allbreast cancers may occur in the 12% of women at greatest risk.Both the candidate gene-based and genome-wide scans have providedprovisional identification of a number of novel susceptibility genes, andthese are currently being confirmed by a world-wide consortium ofindependent laboratories totalling 20,000-plus cases and controls. Nosingle gene so far identified contributes more than 2% of the totalinherited component, consistent with a model in which susceptibility isthe result of a large number of individually small genetic effects.

Breast cancer susceptibility after BRCA1/2: finding the genes and potential practical applications