Whole-genome sequencing can identify patients' hereditary cancer risk

A new research has revealed that whole-genome sequencing can be used to identify cancer-related mutations, which can potentially lead to improvements in cancer prevention, diagnosis and care.

Researcher Theodora Ross from UT Southwestern said that the whole-genome sequencing is a new genetic tool that can determine more of a person's DNA sequence than ever before.

Ross added that their 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

About 5 to 10 percent of all cancers are caused by known inherited gene mutations. These mutations are passed down from generation to generation. Mutations in the BRCA1 and BRCA2 genes are the most common cause of hereditary breast cancer. BRCA gene mutations are best known for their breast cancer risk, but they also cause increased risk for ovarian, prostate, pancreatic, and other cancers.

In addition, there are many different genes, including ATM, CDH1, CHEK2, PALB2, PTEN, and TP53, that are associated with an increased risk for breast cancer, and researchers are continually discovering additional genes that may affect cancer predisposition.

Ross said that 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, although further investigation is needed in order to be able to interpret the precise clinical implications of the mutations found.

The study is published online in the journal EBioMedicine.