Scientists from Poland and Canada have discovered a new gene whose mutations cause a high risk of breast cancer. The international research team was led by Prof Cezary Cybulski, a geneticist from the Department of Genetics and Pathomorphology at the Pomeranian Medical University (PUM), and Mohammad Akbari from the University of Toronto.
The detection of the repetitive (founder) ATRIP mutation in Poland makes it possible to use a simple and inexpensive test to detect this mutation. According to PUM researchers, later this year, patients will be able to check during diagnostic tests whether they are carriers of the mutated ATRIP gene.
In the event of a positive result, recommendations will include, among other things, more frequent examinations, and mammography from the age of 35. As cancer in women with the ATRIP mutation has impaired DNA repair by homologous recombination – it is likely that patients will respond well to chemotherapy treatment (e.g. cisplatin, PARP inhibitors).
