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mutation detection

A New York Genome Consortium-led team plans retrospective and prospective analyses on very rare cancers in the hopes of improving treatment options available for patients.

With exome sequences from more than 600 metastatic breast tumors, researchers identified genomic alterations related to tumor progression, treatment response, and patient outcomes.

The firm hopes for a decision from the FDA later this year for its breast cancer drug candidate alpelisib, following results from a late-stage trial.

Using exome or transcriptome data from more than 400 metastatic, castration-resistant prostate cancer cases, researchers identified survival-related alterations in the RB1 gene.

Mismatch repair-deficient tumors with many insertion-deletion mutations and enhanced microsatellite instability responded better to anti-PD-1 immunotherapy.

With genomic and proteomic profiles for more than 100 colon cancer cases, researchers identified drug targets, treatment resistance insights, potential cancer drivers, and more.

The TATTON study found a combination therapy could treat some EGFR-positive lung cancer patients who developed MET-based resistance, but the best way to gauge MET status isn't yet clear.

At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.

With retrospective and prospective analyses on women with BRCA1/2 mutations, investigators began teasing out breast cancer risk relative to reproductive history.

Researchers at UC Santa Cruz have found patterns in RNA sequencing data that have led to possible treatments for cancers with no actionable mutations.

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