Current Gene-Mutation Screening Misses Cancer

Tests of DNA designed to detect cancer could be inadequate, according to The Eve Appeal, a charity group, raising awareness of women's cancer issues.

Gene mutations in BRCA genes can signal that a woman has up to an 80 percent chance of developing breast cancer at some point in her life. The group is encouraging people in high-risk groups to undergo genetic screening for genetic triggers for certain cancers. More common screening among patients would lower health costs, the group argues, through early detection, leading to less-invasive, and expensive, treatments.

In some people, BRCA genes will stop DNA from repairing itself, which can lead to an increased risk of cancer growth. These changes can increase the risk of breast, prostate and ovarian cancers.

Just one in every 800 people in the general population carry mutated BRCA genes.

Ashkenazi Jewish populations are one of the groups at high risk for developing cancers, including those of the breasts. Roughly 2.5 percent of people - one in 40 - descended from that heritage exhibit the mutated genes.

Family history is often used by patients and health care workers to determine if screenings for genetic triggers is warranted.

University College London and University of Manchester researchers studied 1,034 Ashkenazi Jews, to determine the effectiveness of screening entire high-risk populations, compared to just those with a family history of cancer. They found that 56 percent of subjects who carry the mutation would not have been tested, based on just their family history.

Roughly 114,400 Ashkenazi Jewish women currently live in the United Kingdom. An analysis, not connected to this recent report, estimated savings brought about by testing the entire population at $3.7 million pounds, or 5.8 million dollars.

"As knowledge of the genetic basis of cancer increases, the acceptability to society of this type of testing rises and the cost of testing falls, we are likely to see rapid change in the way we deliver cancer genetic testing in health care," Ian Jacobs, Dean of Faculty of Medical and Human Sciences at the University of Manchester, said.

Some patients, like Caroline Presho, a 41-year-old Ashkenazi Jewish woman from the United Kingdom, are hoping widespread genetic screenings will help them make informed decisions about their health. She underwent a double mastectomy when she was 36, after learning she exhibited the BRCA mutation. Despite the deaths of both her father and aunt to cancer, she did not qualify for BRCA screening based on family history.

"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," Athena Lamnisos, CEO of The Eve Appeal, said.

Study of genetic risk factors in cancer, compared to screenings based on family history, was published in the Journal of the National Cancer Institute.

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