Researchers at UT Southwestern Medical Center in Dallas have developed new methods for analyzing the large amount of data generated by whole-genome sequencing used to identify patients at risk for hereditary cancers.

Results of the study, the first to leverage whole-genome sequencing to evaluate a series of 258 cancer patients’ genomes to improve the ability to diagnose cancer-predisposing mutations, are posted online in the journal EBioMedicine.

“Our results show that nearly 90 percent of clinically identified mutations were confidently detected and additional cancer gene mutations were discovered, which together with the decreasing costs associated with whole-genome sequencing means that this method will improve patient care, as well as lead to discovery of new cancer genes,” said Theodora Ross, M.D., professor of internal medicine and director of UT Southwestern’s Cancer Genetics Program, which sees more than 2,000 patients annually.

The research team headed by Ross devised a method to compare the group of patients with BRCA1 or BRCA2 mutations to a group of patients without BRCA mutations. Mutations in the BRCA1 and BRCA2 genes are the most common cause of hereditary breast cancer, but BRCA gene mutations also have increased risk for ovarian, prostate, pancreatic, and other cancers.

All expected BRCA1 and BRCA2 mutations were detected in the BRCA group, with at least 88.6 percent of mutations confidently detected. By contrast, different cancer gene mutations were found in the cohort without BRCA mutations.

“The results demonstrate that whole-genome sequencing can detect new cancer gene mutations in non-BRCA ‘mystery’ patients, demonstrating the added value whole-genome sequencing brings to the future cancer clinic,” added Ross, who said that further investigation is needed in order to be able to interpret the precise clinical implications of the mutations found.

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