Researchers at the Nottingham Breast Unit in the UK have developed an easy and affordable way of screening families for underlying hereditary genetic mutations which predispose them to developing breast cancer, the 3rd European Breast Cancer Conference in Barcelona heard today (Wednesday 20 March).
By testing samples from either two family members affected by breast cancer or from one family member with two tumours, the new test can indicate the presence of mutations in breast cancer genes in 50% of cases, and possibly even more. Once the test has given this indication, doctors can then go on to carry out genetic mutation analysis in only those families where the test has shown a mutation is most likely to be present, and so cut costs by avoiding unnecessary analyses.
Jos Cid, who carried out the research while he was a clinical research fellow at the Breast Unit, told the conference that an added advantage of this test is that it can be carried out on tumour material stored from previous operations, which enables families to be tested for the presence of a gene mutation when the relative with cancer has already died.
He said: At present, women who have a high chance of carrying a gene mutation are seen in the family history clinic, where they are offered gene testing only after a full mutational analysis has been done first in the blood of an alive, affected relative. This is time-consuming and expensive. Our alternative procedure requires analysis also in relatives, but this can be done in tissue stored from an operation sometimes carried out many years ago, and it is quick, easy and affordable.
Mr. Cid recruited 67 families who were expected to be at high risk of developing hereditary breast cancer from the strength of their family history. He did not know in advance whether or not they had mutations in the breast cancer genes BRCA1 and BRCA2.