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Study of Ashkenazi Jewish women suggests gene screening rethink

8 September 2014
Appeared in BioNews 770

All Ashkenazi Jewish women should be screened for high-cancer-risk genetic mutations from age 30, say scientists behind a study looking at that population.

In the research, women who tested positive for dangerous mutations in the BRCA1 and BRCA2 genes - which occur in relatively high frequency among Ashkenazi Jews - had high rates of breast and ovarian cancer, even with no family history of the disease.

Speaking to The New York Times, Dr Ephrat Levy-Lahad, senior author of the study and director of medical genetics at Shaare Zedek Medical Center in Israel, voiced her support for BRCA screening being offered as a universal test. 'We should be screening people who are still healthy at a stage when we can prevent the disease', she said.

In Israel, current practice is to screen women for these mutations only if they have breast or ovarian cancer or have a strong family history of the disease. Identifying carrier status earlier can allow women to take preventive measures such as mammography, physical examination, removal of the ovaries and fallopian tubes or risk-reducing mastectomy.

In the study, which is published in the journal PNAS, researchers screened over 8,000 healthy Ashkenazi Jewish men from out-patient clinics for mutations in the BRCA1 and BRCA2 genes and then tested these men's female relatives for the mutations. In this way 211 women with mutations were identified. Of the women who reached aged 60, 60 percent of BRCA1 carriers and one third of BRCA2 carriers had developed breast or ovarian cancer, although half reported no family history of cancer.

Among Ashkenazi Jews, 11 percent of breast cancers and 40 percent of ovarian cancers are linked to mutations in the BRCA1 and BRCA2 genes. Professor Mary-Claire King from the University of Washington, joint senior author of this study, helped discover the BRCA1 gene in 1990.

Some clinicians, however, are sceptical about the benefits of universal screening. Dr Susan Domchek, from the Basser Research Center for BRCA at the University of Pennsylvania, told the New York Times: 'I don't think this resolves the question of what the risk is to someone with no family history and a mutation'.

Speaking about preventative removal of healthy breasts and ovaries Dr Domheck said: 'These [procedures] are not trivial. They have potential to cause harm'.

The deputy chief medical officer of the American Cancer Society, Dr Leonard Lichtenfeld, noted that the results were thought-provoking but would have to be discussed extensively before there was any change to screening practice. 'People who think they should be tested really need to be appropriately counselled about the potential benefits and potential risks', he told The New York Times.

SOURCES & REFERENCES
Israeli research team: Screen all Ashkenazi-Jewish women for BRCA mutations
The Jerusalem Post |  5 September 2014
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2
PNAS |  5 September 2014
Study of Jewish Women Shows Link to Cancer Without Family History
New York Times |  4 September 2014
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