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Gene increases risk of breast cancer to 1 in 3 by age 70
Date:8/6/2014

nce have been found and the consensus in the scientific community if more exist we would have found them by now. PALB2 is a potential candidate to be 'BRCA3'. As mutations in this gene are uncommon, obtaining accurate risk figures is only possible through large international collaborations like this.

"Now that we have identified this gene, we are in a position to provide genetic counselling and advice. If a woman is found to carry this mutation, we would recommend additional surveillance, such as MRI breast screening."

The researchers at Addenbrooke's Hospital, part of Cambridge University NHS Hospitals Trust, have developed a clinical test for PALB2, which will become part of their NHS service. Clinical testing for PALB2 will be available also in certain other diagnostic laboratories worldwide.

There is evidence that cells carrying the PALB2 mutation are sensitive to a new class of drugs known as PARP inhibitors that are currently being trialled in BRCA1/2-related breast cancers. It is possible that these drugs would also work in PALB2-related breast cancer.

Dr Antonis Antoniou from the Centre for Cancer Genetic Epidemiology at the University of Cambridge adds: "Knowing the key genes that significantly increase cancer risk and having precise cancer risk estimates ultimately could help assess the breast cancer risk for each woman and allow better targeting or surveillance."

Professor Peter Johnson, Cancer Research UK's chief clinician, said: "We're learning all the time about the different factors that may influence a woman's chances of developing breast cancer. This particular mutation doesn't make people certain to develop cancer, but it's another piece of information to help women make proper informed choices about how they may help to minimise their own risk."


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Contact: Craig Brierley
craig.brierley@admin.cam.ac.uk
44-012-237-66205
University of Cambridge
Source:Eurekalert

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