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Purpose  This study sought to assess the prevalence of common germline mutations in several genes engaged in the repair of DNA double-strand break by homologous recombination in patients with triple-negative breast cancers and hereditary non-triple-negative breast cancers. Tumors deficient in this type of DNA damage repair are known to be especially sensitive to DNA cross-linking agents (e.g., platinum drugs) and to poly(ADP-ribose) polymerase (PARP) inhibitors.    Methods  Genetic testing was performed for 36 common germline mutations in genes engaged in the repair of DNA by homologous recombination, i.e.,  BRCA1 ,  BRCA2 ,  CHEK2 ,  NBN ,  ATM ,  PALB2 ,  BARD1 , and  RAD51D , in 202 consecutive patients with triple-negative breast cancers and hereditary non-triple-negative breast cancers.    Results  Thirty five (22.2%) of 158 patients in the triple-negative group carried mutations in genes involved in DNA repair by homologous recombination, while 10 (22.7%) of the 44 patients in the hereditary non-triple-negative group carried such mutations. Mutations in  BRCA1  were most frequent in patients with triple-negative breast cancer (18.4%), and mutations in  CHEK2  were most frequent in patients with hereditary non-triple-negative breast cancers (15.9%). In addition, in the triple-negative group, mutations in  CHEK2 ,  NBN , and  ATM  (3.8% combined) were found, while mutations in  BRCA1 ,  NBN , and  PALB2  (6.8% combined) were identified in the hereditary non-triple-negative group.    Conclusions  Identifying mutations in genes engaged in DNA damage repair by homologous recombination other than  BRCA1/2  can substantially increase the proportion of patients with triple-negative breast cancer and hereditary non-triple-negative breast cancer who may be eligible for therapy using PARP inhibitors and platinum drugs.

plos one

Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers