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'Offer breast cancer risk gene screening to every 30-year-old woman', says scientist who discovered BRCA1

15 September 2014
Appeared in BioNews 771

A leading scientist involved in the identification of the BRCA1 gene mutation has recommended that genetic screening of the BRCA genes should be routinely offered to all women aged 30 years or over.

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 451536" title="<span lang="EN-US">451536</span>" target="_blank" class="">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.

Geneticist Mary-Claire King to receive Lasker Foundation Award
University of Washington (press release) |  8 September 2014
Lasker Winner Calls for More Genetic Testing for Cancer
New York Times |  8 September 2014
On A Day When Apple Sidesteps Healthcare Technology, Mary-Claire King Shows How To Confront It
Forbes |  10 September 2014
Population-Based Screening for BRCA1 and BRCA2
Journal of the American Medical Association |  8 September 2014
Researcher Urges Wider Genetic Screening For Breast Cancer
npr |  8 September 2014
27 April 2015 - by Dr Indrayani Ghangrekar 
A US company has announced a low-cost genetic test for breast cancer...
30 March 2015 - by Sophie McLachlan 
In an article in the New York Times, Angelina Jolie has revealed her decision to have her ovaries and fallopian tubes removed, in her on-going battle to reduce her risk of cancer...
16 March 2015 - by Dr Meghna Kataria 
A new study has uncovered fifteen novel 'hotspots' in the human genome that increase a woman's risk of developing breast cancer - bringing the total count of known genetic risk factors to 94...
9 February 2015 - by Dr Rachael Panizzo 
An international research collaboration analysing the DNA of 100,000 women has identified two new genetic variants that are associated with an increased risk of the most common form of breast cancer...
19 January 2015 - by Kirsty Oswald 
UK researchers have identified a gene that is active in a difficult-to-treat form of breast cancer, raising the possibility of developing targeted treatments.
8 September 2014 - by Dr Kimberley Bryon-Dodd 
Angelina Jolie's decision to openly discuss her preventative double mastectomy after testing positive for a dangerous BRCA1 mutation may have led to a dramatic upswing in referrals to genetic counselling services, if results from a Canadian study are widely applicable...
8 September 2014 - by Dr Charlotte Warren-Gash 
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....
27 August 2013 - by Simon Hazelwood-Smith 
For the first time, a major health insurance company in the USA will require its customers to receive genetic counselling before it will pay for certain genetic tests...
23 March 2006 - by BioNews 
Commercial genetic testing offered to women with a family history of breast cancer may provide false reassurance in some cases, a new US study shows. Researchers based at the University of Washington in Seattle studied women affected by hereditary breast cancer, who had all received negative results following BRCA1 and...
Women cannot make an informed decision about this test ( - 17/09/2014)
As long as the genetic notions of breast cancer held on by the medical business are mired in dogma instead of good science (discussed in the book "The Mammogram Myth" by Rolf Hefti - see ), and as long as the same industry suppresses critical information about BRCA and invasive cancer treatments, incorporating this test systematically is likely going to do more harm than good, and women are allowed to only make an uninformed decision based on one-sided information.
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