期刊
BIOMARKERS IN MEDICINE
卷 8, 期 4, 页码 589-603出版社
FUTURE MEDICINE LTD
DOI: 10.2217/bmm.13.143
关键词
ATM; BRCA1; BRCA2; breast cancer; CHEK2; genetic susceptibility; homologous recombination repair; missense substitution; rare variant; unclassified variant
资金
- Australian National Health and Medical Research Council
- Susan G. Komen Foundation
- US NIH
- NIH NCI [R01CA121245]
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. Among genes that have been extensively evaluated, BRCA1, BRCA2, PALB2 and BRIP1 stand as examples where the majority of mutations lead to protein truncation;TP53 provides a counter example, where the majority of pathogenic variants are missense substitutions. In ATM and CHEK2, missense substitutions are probably equally or more important in terms of their frequency and attributable risk. Therefore, ongoing efforts to identify new susceptibility genes should not ignore missense variation.
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