Original Publication Date: 25 May, 2014
Publication / Source: Biomarkers in Medicine
Authors: Sean V Tavtigian & Georgia Chenevix-Trench
Most cancer susceptibility genes function as tumor suppressors; accordingly, the focus of mutation screening in breast cancer families has been to identify protein-truncating mutations. However, it is now clear that, for some breast cancer susceptibility genes, a significant proportion of the burden of disease comes from rare missense substitutions.