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J Med Genet 2000;37:161-167 ( March )

Review article

Detecting low penetrance genes in cancer: the way ahead R S Houlstona, I P M Tomlinsonb

a Section of Cancer Genetics, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK, b Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, UK

Correspondence to: Dr Houlston, r.houlston{at}icr.ac.uk or Dr Tomlinson, i.tomlinson{at}icrf.icnet.uk

The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, however, presents specific opportunities for gene identification, which are not found in many other diseases. While the methods of genetic mapping and gene cloning used for other complex diseases will be applied to cancer, these must almost certainly be complemented by other methods, such as the study of somatic mutations, cancer associated phenotypes, and modifier genes for Mendelian cancers. Here, we review the strategies available for identifying cancer predisposition genes of low and moderate penetrance.


Keywords: low penetrance gene; cancer

© 2000 by J Med Genet


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