Abstract
Heterozygous Mutations in DNA Repair Genes and Hereditary Breast Cancer: A Question of Power
Highlights
Both the promise and the limitations of these new technologies have been evident in the untangling of the polygenic basis of susceptibility to human breast cancer
Supporting the idea that new breast cancer genes could be identified, analysis of the genetic variance remaining after BRCA1 and BRCA2 mutations had been excluded suggested that most of the excess genetic risk was concentrated in a small percentage of persons [6]
In Thompson et al, the authors performed exome sequencing of multiple breast cancer cases from a small number of families (33 persons in 15 families) in whom BRCA1 and BRCA2 mutations had been excluded, and they focused on mutations that are predicted to ablate the function of the gene product, namely, mutations that cause premature termination of translation or that destroy splice-sites
Summary
Both the promise and the limitations of these new technologies have been evident in the untangling of the polygenic basis of susceptibility to human breast cancer. Supporting the idea that new breast cancer genes (often referred to collectively as BRCA3) could be identified, analysis of the genetic variance remaining after BRCA1 and BRCA2 mutations had been excluded suggested that most of the excess genetic risk was concentrated in a small percentage of persons [6].
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