Abstract

Historically, breast cancer has been treated according to an evaluation of biomarkers, such as the estrogen receptor and HER2 status. Recently, molecular profiling has been used to detect driver mutations and select anti-cancer treatment strategies. In addition to detecting pathogenic mutations, the total mutation count (tumor mutation burden) has been considered as another biomarker. We performed molecular profiling of 143 breast cancer tissues obtained from resected tissues via surgical operation. Suspected germline mutations were detected in 10% of the patients with a higher somatic mutation ratio. As hypermutated breast cancers are more likely to benefit from certain anti-cancer treatment strategies, molecular profiling can be used as a biomarker.

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