The susceptibility of sarcoma may be increased by some oncogenes

A recent study published in the journal Lancet Oncology showed that the germline mutations of some known oncogene may increase the susceptibility of sarcoma for individuals. Sarcoma is a rare bone and soft tissue cancer. An international team led by Australian researchers conducted targeted gene panel sequencing on more than 1,000 patients with sarcoma. In addition to known mutations associated with sarcoma, the sequence data also revealed that other types of genes related to cancer showed recurrent mutations, such as TP53, ERCC2, ATR, BRCA2 and ATM.

The researchers found that in these patients who received tests, more than half of them carried at least one mutation in cancer-related genes, and people who carrying a plurality of cancer-related mutations in genes showed increased risk of arly-onset sarcoma. They accounted for 1/5 of the people who received the test.

Corresponding author of the article DavidThomas said, "The combination of influence of various genes combined increased risk of sarcoma. More mutations a patient carry, cancer comes sooner. Previously we can't judge the populations and family at risk, but now we can better manage this risk and help these people to be treated in time of need."

Thomas and his colleagues focused on 72 potential genes with cancer risk and extracted extract DNA of blood or saliva samples of 1,162 sarcoma patients aged above 15 and conducted targeted gene panel sequencing. About 3/4 of the people are Caucasian, and about 15% of them with multiple primary cancer.

Researchers compared the control groups and found that about 55% of patients with sarcoma showed suspicious increase of germline mutations, and these variations appeared to be pathogenicity. Mutations mostly happened in TP53, BRCA2, ATM, ATR and ERCC2 genes.

The research team plans to continue to expand the current research results to conduct whole genome sequencing on the sample of people with risk of germline sarcoma.

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