Prof Andrzej Pławski and Eng. Emilia Lis-Tanaś from the Innovative Medical Centre of the Institute of Human Genetics of the Polish Academy of Sciences (PAN) in Poznań, have been granted a patent for detecting a genetic predisposition to breast cancer.

The patented invention is used to detect quickly and precisely the most common point mutations in the RECQL and PALB2 genes. Alterations in these genes cause an extremely aggressive form of breast cancer with a poor prognosis and incidence at a very young age. The most frequent mutations of these two genes in the European population are the three-point mutations c.1667_1667+3delAGTA in the RECQL gene and c.509_510delGA and c.172_175delTGT in the PALB2 gene, as well as a deletion of exon 9 of the PALB2 gene classified as a copy number change mutation.

The detection of simultaneous point mutations and changes involving larger DNA fragments causes diagnostic problems, as it requires the use of expensive and labour-intensive analyses. The method for detecting these mutations, developed at the Institute of Human Genetics of the Polish Academy of Sciences, is based on the application of a novel C-HRM (comparative high-resolution melting) method for the simultaneous detection of point mutations and copy number change mutations. The C-HRM method was developed and published by Professor Plawski’s team in 2014. Due to the ever-increasing demand for fast and low-cost diagnostic methods, the invention has a high potential for commercialisation.

„Identifying the genetic basis for the occurrence of breast cancer, but not only, also prostate, or ovarian cancer, is very important for appropriate therapy. Carrying mutations in genes related to DNA damage repair is very important for prevention and undertaking appropriate treatment. The response to treatment of mutation carriers is quite different from that of sporadic cancers without mutations in DNA damage repair genes”, explains Prof. Andrzej Pławski.

Adrian Andrzejewski