Melbourne: Researchers have recently identified 15 new gene regions linked to breast cancer risk that makes the count up to around 100 markers, which will ultimately help in more efficient screening. Scientists from QIMR Berghofer Medical Research Institute and Cambridge University, in collaboration with the international Breast Cancer Association Consortium (BCAC), have identified new gene regions.
Professor Georgia Chenevix-Trench, who heads QIMR Berghofer’s Cancer Program, said once scientists discover more about the consequences of these variants on the expression of genes nearby, they would have a much better understanding of how breast cancer arises, and what can be done to prevent it.
QIMR Berghofer researcher Dr Jonathan Beesley has been able to predict that three genes, SETBP1, RNF115 and PDZK1, not previously linked to breast cancer susceptibility, are likely to be involved. Professor Chenevix-Trench further mentioned that including the new variants or “typos” in genetic testing would allow a more accurate prediction of whether a woman was at high or low risk of breast cancer. These variants are relatively common and have a more subtle impact than rarer mutations such as BRCA1 and BRCA2.
Professor Chenevix-Trench concluded that taking into account these 94 variants, they estimated that approximately five per cent of women in the general population have a two-fold increase in their breast cancer risk compared to the average.