Calls for expanded BRCA1 genetic testing of women
Sources: Medical Xpress, Huffington Post, Research paper
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. 
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