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US task force publishes familial breast cancer advice

8 September 2005
By BioNews
Appeared in BioNews 325

The US Preventive Services Task Force has published guidelines on assessing the risk of familial breast and ovarian cancer. It states that genetic counselling is only appropriate for women whose family history suggests they may have inherited a mutation in the BRCA1 and BRCA2 breast cancer genes. The recommendations were published in the Annals of Internal Medicine.

Most cases of breast cancer are not inherited, but around 5-10 per cent are due to a gene mutation. Women who have a mutation in either the BRCA1 or BRCA2 gene have a greatly increased lifetime risk of developing breast and ovarian cancer. However, since most women with breast cancer do not have a faulty BRCA1 or BRCA2 gene, screening populations for the mutations is not justified, says the task force.

The recommendations are similar to those issued by the UK's National Institute for Health and Clinical Excellence (NICE) last year. They list the family history patterns linked to a BRCA gene mutation: two first-degree relatives with breast cancer, one of whom was diagnosed before the age of 50; three or more close relatives diagnosed with breast cancer at any age; a close relative diagnosed with both breast and ovarian cancer; a close relative with cancer in both breasts; two or more close relatives with ovarian cancer; or a male relative with breast cancer.

The US panel also recommends that women of Ashkenazi Jewish descent with any one relative diagnosed with either breast or ovarian cancer should be referred for genetic counselling, since the disease is more common in this group. Around 2.5 per cent of people of Ashkenazi Jewish descent carry one of three common BRCA1/BRCA2 gene mutations.

An editorial accompanying the study said that the guidelines highlight the need for doctors to take a detailed family medical history of their patients. 'Taking a family history has long been considered an integral part of medical evaluation, but few clinicians gather the detailed information required', wrote Dr Wylie Burke, of the University of Washington.

The authors of the guidelines conclude that 'risk assessment, genetic counselling and mutation testing did not cause adverse psychological outcomes, and counselling improved distress and risk perception in the highly selected populations studied'. Risk assessment includes advice about possible options for women at high risk of breast or ovarian cancer, such as preventative surgery to avoid developing the disease. Research is also underway to find out if treating such women with tamoxifen or similar drugs can reduce the risk of developing the illness.

Familial breast cancer
NiCE |  23 June 2005
Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility
Annals of Internal Medicine |  6 September 2005
Panel clarifies BRCA screening recommendations
Reuters |  6 September 2005
Test genes of only those at high risk, task force advises
The Globe and Mail |  6 September 2005
28 May 2012 - by Dr Jessica Mozersky 
Ashkenazi Jews have historically been an endogamous population. Marrying within the group remains important to many Jews because endogamy is seen as one way to preserve Judaism and ensure the survival of future generations. In the wake of the Holocaust, and amidst a steadily decreasing Jewish population, Jewish survival has great cultural relevance...
15 August 2005 - by BioNews 
A new test could enable doctors to more accurately predict if women are at a higher risk of carrying a mutated BRCA1 breast cancer gene. This may help women who do not know if the disease runs in their family decide whether they need to be tested for the mutated...
18 April 2005 - by BioNews 
African American women at risk of developing breast cancer are much less likely to receive genetic testing, according to a new US study. Researchers at the University of Pennsylvania looked at racial disparities in genetic counselling for an inherited susceptibility to breast and ovarian cancer. Their results, published in the...
18 March 2005 - by BioNews 
A US company offering genetic tests direct to customers has attracted criticism for not offering patients adequate care, the British Medical Journal (BMJ) reports. But DNA Direct, which offers tests for susceptibility to breast and ovarian cancer via the internet, says it offers customers exactly the same counselling and testing...
24 October 2003 - by BioNews 
Women who inherit mutations in one of two genes involved in inherited breast cancer have an 82 per cent lifetime risk of developing the disease, according to a new study carried out by the New York Breast Cancer Study Group (NYBCS). They found that women who have a genetic mutation...
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