A newly-identified breast cancer gene could open the door to further genetic discoveries, researchers reported yesterday.
Currently about 30 per cent of the familial risk for breast cancer has been explained. Professor Melissa Southey and colleagues from the University of Melbourne, Australia say that mutations in the newly identified gene, XRCC2, may explain some breast cancers that run in families where there is no known genetic cause and that particularly occur at an early age.
It was identified through gene sequencing of two families, one in Melbourne and one in the Netherlands. Further studies of blood samples from 689 families with multiple members diagnosed with breast cancer, 1,308 women who were affected at an early age by breast cancer and recruited from the general population, and 1,120 healthy women showed that XRCC2 mutations were much more likely in the breast cancer patients.
"We identified this gene quite quickly using genetic technology called massively parallel sequencing, which enables sequencing of large amounts of human DNA at high speed," Professor Southey explains.
"Due to these results and our methodology we believe that further breast cancer risk genes will be identified at a faster rate than before and potentially for other cancers such as colorectal and prostate cancers."
She adds that the discovery could help families to determine which members are at high risk of breast cancer, as unaffected relatives of people with the rare mutation in XRCC2 could be offered predictive testing, genetic counselling and clinical management on the basis of their mutation status.
"People whose breast cancer is associated with XRCC2 mutations could also benefit from specific treatments that target the genetic fault," she said.
Findings appear in American Journal of Human Genetics.
Rare Mutations in XRCC2 Increase the Risk of Breast Cancer. Park, D. J. et al. The American Journal of Human Genetics March 29 2012 doi:10.1016/j.ajhg.2012.02.027
Leave a Reply