Fortnightly Review: Familial breast cancer

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Abstract
Advances in genetics From studies of the pattern of distribution of breast and other cancers in families it has been known for some time that inheritance is usually dominantly transmitted.6,7 To find the defective gene or genes somewhere in the genome is a daunting task. Nevertheless, the past two years have seen the identification of mutations in one gene (p53) and the location of another (BRCA1) that are now known to predispose to breast cancer. Dr Steven Friend and colleagues in Boston guessed that the defect in a rare breast cancer family syndrome (the Li Fraumeni syndrome, in which breast cancer occurs at a young age associated with soft tissue sarcoma, osteosarcoma, adrenal tumours, gliomas, and other often childhood tumours4,8,9) may be caused by a mutation in the p53 tumour suppressor gene on the short arm of chromosome 17 (17p).4 Studies by his and other groups have shown that germline mutations in the p53 gene can be found in about half of families with this syndrome. Inherited mutations in the p53 gene may account for only a small percentage of breast cancers, but when a specific mutation can be identified in a family specific predictive tests can give reassurance to an average of half of first degree relatives and three quarters of second degree relatives who can be shown not to have inherited the gene.

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