'Offer breast cancer risk gene screening to every 30-year-old woman', says scientist who discovered BRCA1
15 September 2014
ByAppeared in BioNews 771
Mutations in the genes BRCA1 or 2 increase the risk of breast and ovarian cancers. Professor Mary-Claire King, of the University of Washington, made the call for population-based BRCA screening in a 'viewpoint' article published in The Journal of the American Medical Association (JAMA) which also provides updated estimates of cancer risk for BRCA mutation carriers.
Currently women are only referred for testing if they have a family history of breast or ovarian cancer. However, Professor King's recent research (see BioNews 770) suggests that relying on family history may miss half of the families with BRCA1 or BRCA2 mutations. Consequently, Professor King has recommended that, 'every woman in America of any race or ancestry be offered this opportunity when she's in the midst of childbearing or beginning childbearing'.
'You only need to be tested once, and the vast majority of women will not have a mutation and can go about their life. The actual cost is minimal', she said.
Professor King estimates that universal screening would identify 250,000 to 400,000 women in the USA with harmful mutations in the BRCA1 or BRCA2 gene. Identifying women with such mutations provides them with the opportunity to undergo risk-reducing surgery to remove their breasts and/or ovaries.
Her recommendation follows the publication of a Canadian study which reported an substantial increase in women seeking genetic counselling for BRCA mutations following Angelina Jolie's decision to openly discuss her preventative double mastectomy (reported in BioNews 770).
Speaking to the New York Times, Professor King said: 'Women who do learn they have a mutation that's comparable to Angelina Jolie's and confers very high risk can begin to think about what that means and be referred to a high-risk clinic to develop a prevention plan'.
However, other scientists have called for more evidence to support the view that a healthy woman with a genetic mutation, but with no family history of breast or ovarian cancer, is actually at high risk for the diseases.
Dr Fran Visco, president of the USA's National Breast Cancer Coalition, told NPR, 'These are very serious surgeries that women have to undergo. Removing their breasts. Removing their ovaries. We're talking about surgery to remove healthy body parts. If we give women this message, we may very well end up doing more harm than good'.
In response to the concerns, Professor King told the New York Times: 'Critics may object that "women aren't ready for this". But why should women be protected from information that will empower them and allow them to control their lives? We don't need that kind of protection'.
Professor King wrote the JAMA article after winning the 2014 Lasker-Koshland Special Achievement in Medical Science award for her 'bold and imaginative contributions to medical science and society – exemplified by her discovery of a single gene BRCA1 that causes a form of hereditary breast cancer'.
In the article she says that screening should only be used to detect 'unambiguously loss-of-function mutations with a definitive effect on cancer risk', and that women should not be told about other rare mutations whose significance is unknown.