See GAIC, Report Department of Health 2004.
Recent data from the CMGS 2004-2005 audit suggested that nationally this figure is still not exceptionally high. In this audited period 11,000 tests had been undertaken but of these only 94 confirmed the presence of a mutation. Although difficult to confirm definitively, a more personal communiqué with a leading oncologist in the field in 2006 suggested that although approx 25,000-30,000 genetic tests (predictive and mutation screening combined) had been undertaken in the UK, to date perhaps as few as 1200 carriers of BRCA mutations have been positively identified.
In the General Hospital, practitioners preferred to draw the family tree with the patient in attendance during first time appointments. See 'Women Faking Cancer Histories' accessed August 23, Web page 21st April 2005 http://news.bbc.co.uk/1/hi/health/4466313.stm which suggested that a small percentage of women (1 per cent) were inventing family history in order to have treatment.
This is the likelihood that a person carrying a mutation will develop the condition.
Her response to my query acknowledged that this was an oversimplification but she pointed out 'people start to lose the thread if you start talking about how these genes are dominant but recessive in terms of the phenotype'.
Was this article helpful?