The Largest Whole-genome Sequencing Study in Cancer

Danielle Gerhard in The Scientist:

There is no single genetic blueprint for cancer. Instead, each individual cancer draws on a collection of acquired mutations that endow the cells with a selective advantage and superior immune evasion and proliferation tactics. Thanks to next-generation sequencing technologies, many patients diagnosed with a particular cancer can discover whether their tumors harbor specific mutations that render them more susceptible to particular therapies. However, targeted approaches fail to capture the full suite of alterations and biomarkers nestled in the complex genetic architecture of a patient’s tumor, potentially obscuring the best available treatment plan for an individual patient.

In a study published in Nature Medicine, researchers developed a bioinformatics pipeline for integrating whole-genome sequencing (WGS) data from 13,880 tumors with matching patient clinical data.1 The large-scale study revealed somatic and germline DNA mutations that affect prognosis, highlighting the potential influence of comprehensive cancer genomics on patient outcomes.

More here.

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