According to a study published online in the journal EBioMedicine, researchers have found that whole-genome sequencing can be used to identify patients’ risk for hereditary cancer. This can potentially lead to improvements in cancer prevention, diagnosis and care.
Whole-genome sequencing is a new genetic tool that can determine more of a person’s DNA sequence than ever before. About five to 10 percent of all cancers are caused by known inherited gene mutations. Mutations in the BRCA1 and BRCA2 genes are the most common cause of hereditary breast cancer. In this study, researchers developed new methods to analyze the large amount of data generated by whole-genome sequencing.
All expected BRCA1 and BRCA2 mutations were detected in the BRCA group, with at least 88.6 percent of mutations confidently detected. The results demonstrate that whole-genome sequencing can detect new cancer gene mutations in non-BRCA ‘mystery’ patients. Mystery patients are those who have a strong family history for cancer but after standard genetic testing, no genetic diagnoses are made.