Most people don’t know if they have cancer-causing BRCA mutation, study says


Most people who carry genes that raise their risk of developing certain forms of cancer are unaware of it, according to research.

Scientists at Geisinger Medical Center mapped the genes of 50,726 adults and found more than 80 percent had a heightened risk of breast, ovarian, pancreatic and prostate cancer because of their genes but were unaware of their risk.

Researchers documented the mutations of the BRCA1 and BRAC2 genes in the participants. Of the total number of volunteers, 267 had a variant of BRCA1 and BRCA2 gene mutations. But slightly less than a fifth knew of their risk for cancer before they entered the study.


When the BRCA genes work correctly, they produce tumor suppressor proteins that help to repair damaged DNA. But if they are faulty, the body can struggle to fix DNA, therefore making it more likely for cells to become cancerous.

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These mutations can significantly increase an individual’s risk of developing cancer. For instance, a woman with the BRCA1 or BRCA2 mutation has a 72 percent and 69 percent greater risk of developing breast cancer by the age of 80, respectively, compared with the baseline of 12 percent for the average woman.

The authors wrote that their results suggest current screening methods used to identify these genes may not be sufficient to prevent cancer in the general population.


Read full, original post: Genetic cancer risk: 80% of people with BRCA1 or BRCA2 mutations are unaware

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