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Gene Mutations Foretell Immunotherapy Response

A drug that blocks an immune checkpoint protein effectively treats tumors in patients with deficient DNA repair genes. 

Written byAggie Mika
| 2 min read

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T cells filled with red vesicles attack a cancer cell (blue).

FLICKR, ALEX RITTER, JENNIFER LIPPINCOTT SCHWARTZ, GILLIAN GRIFFITHS, NATIONAL INSTITUTES OF HEALTH

An immune checkpoint blocker successfully treated a variety of tumors in patients with gene mutations in a DNA repair pathway, according to a study published last week (June 8) in Science. Johns Hopkins University researchers and their colleagues demonstrated that the drug pembrolizumab eliminated, shrank, or stopped the growth of tumors in 66 out of 86 patients with 12 different types of cancer.

These patients all had advanced tumors that exhibited genetic mutations in mismatch repair (MMR)—a pathway responsible for scoping out and fixing a variety of DNA mistakes—and had already undergone at least one round of cancer treatment. As the New York Times reports, a 60-year-old patient with a rare and aggressive bile duct tumor was one of the participants who experienced remission following treatment.

Pembrolizumab, branded as Keytruda, is an antibody that targets PD-1—a protein that ...

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