Genetic cancer screenings based on family history may not go far enough

GeneMutation b ddab f b c e e

Simultaneous sequencing of tumor DNA and normal tissue for a broad panel of cancer-related genes may detect more potentially clinically significant heritable mutations than a targeted approach based on current clinical guidelines, according to a study published by researchers at Memorial Sloan Kettering Cancer Center (MSK).

The study by Kenneth Offit, M.D., chief of the Clinical Genetics Service and Robert and Kate Niehaus Chair in Inherited Cancer Genomics at MSK, found that more than half of inherited cancer gene mutations in people with advanced cancer were not detected using traditional methods based on family history.

Those results suggest that current guidelines for genetic testing based on family history may not detect all clinically actionable genetic mutations, the MSK researchers concluded.…

The researchers analyzed DNA samples from 1040 patients, finding that 182 (17.5%) had mutations indicating cancer susceptibility. Of these 182 patients, 101 (55%) would not have had these mutations detected using traditional guidelines based on family history, age, and tumor type.

“We found that tumor-normal sequencing facilitated personalized therapies and prevention by simultaneously detecting inherited markers of cancer risk and identifying tumor-specific genetic targets for treatments,” added pathologist Diana Mandelker, M.D., Ph.D.

[Read the full study (behind paywall)]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: Study Shows Universal Sequencing Detects More Cancer Mutations

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