A Recurrent <i>ERCC3</i> Truncating Mutation Confers Moderate Risk for Breast Cancer

Joseph Vijai, Sabine Topka, Danylo Villano, Vignesh Ravichandran, Kara N. Maxwell, Ann Maria, Tinu Thomas, Pragna Gaddam, Anne Lincoln, Sarah A. Kazzaz,

Cancer Discovery · 2016 · 50 citations · 25 references

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Abstract

A functionally significant recurrent ERCC3 mutation increased the risk for breast cancer in a genetic isolate. Mutated cell lines showed lower survival after in vitro exposure to DNA-damaging agents. Thus, similar to tumors arising in the background of homologous repair defects, mutations in nucleotide excision repair genes such as ERCC3 could constitute potential therapeutic targets in a subset of hereditary breast cancers. Cancer Discov; 6(11); 1267-75. ©2016 AACR.This article is highlighted in the In This Issue feature, p. 1197.

References

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