Sydney, Aug 5 (IANS) Individuals carrying two or more of rare mutations are at an increased risk of developing a type of cancer that disproportionately affects the children and young adults, finds a study.
The findings showed that mutations in a number of new genes including in the genes ERCC2, ATR, BRCA2 and ATM, significantly increase the risk of developing sarcoma — cancers of connective tissues that include, fat, blood vessels, nerves, bones, muscles, deep skin tissues, and cartilage.
“This is the first time — in any cancer — that anyone has quantified the effect of multiple rare genetic mutations on cancer risk,” said lead researcher David Thomas, Professor at Garvan Institute of Medical Research in Australia.
In individuals carrying mutations in any of the two genes, the risk of developing sarcoma was measurably higher than in those with a mutation in only one gene.
And in carriers of three or more mutations, the risk is even greater, the researchers said pointing out that the study will radically change how sarcoma risk is understood.
“We can now see that the risk for developing sarcoma is increased through the combined effect of multiple genes, and that more the mutations someone carries, the earlier the onset of cancer,” Thomas added.
For the study, the team examined 1000 sarcoma patients, to uncover numerous new genetic risk factors for the cancer. They used a ‘gene panel’ of 72 genes to detect mutations in each study participant.
About half the study participants carried at least one of these apparently cancer-promoting mutations, and almost a quarter carried more than one, which really underscores that sarcoma risk is inherited to a large extent from one’s parents, the researchers noted.
“Understanding the genetic drivers that give a person an increased risk of cancer also helps us understand how best to treat that person’s cancer,” Thomas said, in the study published in the journal The Lancet Oncology.