Abstract

Recent advances in the genetics of heritable breast cancer.

Highlights

  • There have been a number of recent advances in the genetics of heritable breast cancer

  • The different age-incidence curves for gene-carriers and nongene-carriers, means that this proportion rises to between 4 per cent and 20 per cent of women diagnosed under age 45

  • In the analyses described above a total of four pedigrees with germline p53 mutations have been discovered

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Summary

INTRODUCTION

There have been a number of recent advances in the genetics of heritable breast cancer. Houlston et al provide graphs which estimate, for first degree relatives of breast cancer patients, probability of disease over 10 years and lifetime probability, according to age of diagnosis of the index case and age of the sister, mother or daughter requiring assessment. Such relative risks are accurate for the population as a whole, yet absolute risk will obviously vary from family to family if some breast cancer pedigrees represent chance clusters of a common malignancy while others are due to a highly penetrant gene. The different age-incidence curves for gene-carriers and nongene-carriers, means that this proportion rises to between 4 per cent and 20 per cent of women diagnosed under age 45

Linkage analysis
Findings
IMPLICA nONS

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