Study uncovers hidden class of BRCA1 mutations and a potential way to target them

Researchers identified a new role for heat shock protein 90 (HSP90) in cancer predisposition and treatment resistance. HSP90 buffers BRCA1 mutations, masking their negative effects and delaying breast cancer onset. This buffering creates a vulnerability in cancer cells, revealing a potential therapeutic strategy in which targeting HSP90 could be used to overcome treatment resistance. The study, led by Georgios Karras, Ph.D., associate professor of Genetics, identifies predictive features of HSP90 buffering in patients with specific mutations in BRCA1 that may help...

Researchers identify rare mutation that predicts strong immunotherapy response in colorectal cancer

Researchers showed that a specific subset of mutations in the POLE gene is strongly associated with durable responses to immunotherapy in patients with metastatic colorectal cancer (CRC). This type of mutation, called loss-of-proofreading (LOP) mutations, affects specific functions of the POLE protein. The study, led by John Paul Shen, M.D., assistant professor in Gastrointestinal Medical Oncology, and Giulia Maddalena, M.D., Ph.D., former graduate student and attending physician, aimed to help identify and predict which patients benefit from immune checkpoint therapy, avoiding potentially...

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