Calls for expanded BRCA1 genetic testing of women

22 February 2012

New research has suggested that UK guidelines on genetic testing for breast cancer may need to be updated.
Cancer Research UK (CRUK) scientists analysed over 300 women with triple negative (TN) breast cancer and identified BRCA1 mutations in over 10% of them.
Current NICE guidance recommends that BRCA1 gene testing should be offered if the likelihood of detecting a mutation is over 20%; the researchers estimated that on this basis over one in three women with TN breast cancer caused by BRCA1 mutations would not be tested. This is significant because identifying such mutations not only informs medical care for the affected woman, but may also identify other family members at substantially increased risk of developing breast and associated cancers.
They therefore recommend that the guidance should be updated so that all women with TN breast cancer diagnosed under the age of 50 should receive BRCA1 testing, an estimated 1,200 additional tests per year.
CRUK lead clinician Professor Peter Johnson said: “The NHS needs to adapt so that tests for BRCA1 can be offered to women who are likely to carry the mutation. This approach will be cost-effective for the NHS in the long-term”.

Comment: Traditionally, analysis of the BRCA1 gene to identify mutations has been a very time-consuming and expensive process, because the gene is a large one and mutations may be present anywhere in the sequence. However, with the advent of rapid genome sequencing techniques this is becoming less of a problem – so with further evidence such as that of the CRUK researchers, it may indeed become advisable to revise testing guidelines.