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Eight out of 10 people with cancer genes unaware about their risk

More that 80% of those who are genetically predisposed to have cancer are unaware about their risk, a study of over 50,000 people has found.

In the absence of routine screening, most people only discover they carry cancer-associated variants in the BRCA1 or BRCA2 genes when that person or family members receive a cancer diagnosis.

“As a colleague said, it usually takes a tragedy for people to get tested,” said Michael Murray, professor at Yale University in the US.

“Our reliance on a documented personal or family history as a trigger to offer testing is not working. Hopefully, one day we can change that with effective DNA-based screening for everyone,” said Murray.

The mean age of subjects in the study was 60. Two hundred and sixty-seven of those screened possessed a BRCA risk variant, yet only 18% of them were aware they possessed this risk factor for cancer prior to being informed by the study.

Among the group of living BRCA-positive patients, 16.8% of them had a BRCA-associated cancer. In the small group of BRCA-positive patients who had died before the study’s conclusion, 47.8% of them had a BRCA-associated cancer.

“Once risk is identified, we can apply proven tools for early diagnosis and prevention, and we believe that the 31% difference in cancer incidence in these two groups is a window into an opportunity to decrease cancer and cancer deaths through genomic screening approaches,” Murray said.

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First Published: Sep 23, 2018 14:17 IST

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