A gene assessment meant to pinpoint mutations that increase cancer risk in patients may be missing half the people who possess them.
The current method relies on assessing a patient's family history, a news release reported. Research shows women who carry a BRCA 1 or 2 gene mutation have between a 15 and 45 percent chance of getting ovarian cancer and between a 45 and 65 percent chance of developing breast cancer.
To make their findings researchers with the Genetic Cancer Prediction through Population Screening (GCaPPS) study looked at the difference between family history-based testing and population screening in the Ashkenazi Jewish community, which has a large number of members carrying the BRCA gene mutation.
"Our findings have important implications. For the Ashkenazi Jewish community specifically, they suggest that population testing for BRCA1/2 mutations could save lives, is felt to be acceptable, and would be cost-effective. Assessing these risk factors is important because it can help women prevent the development of these cancers through increased screenings and risk-reducing surgeries," said Professor Ian Jacobs, Chief Investigator, GCaPPS and Vice-President and Dean of the Faculty of Medical and Human Sciences, University of Manchester.
In the study 56 percent of people carrying the BRCA mutation were not identified by the population testing.The study also found there was no significant difference in the short-term psychological impact or quality of life between the people tested through population screening or family history testing. It also points out that screening Ashkenazi Jewish of the age of 30 or older could significantly reduce the number of ovarian and breast cancers.
"Women at increased risk of cancer deserve far more than today's genetic screening process gives them. This study shows that broadening genetic testing beyond just family history saves more lives and more money," said Athena Lamnisos, CEO of The Eve Appeal.
The findings were published in a recent edition of the Journal of the National Cancer Institute.
