BS01 WHAT NEXT FOR BREAST CANCER GENE TESTING?

Abstract

In 1994 and 1995 the BRCA1 and BRCA2 genes were first discovered. These breakthroughs quickly lead to the clinical testing of these genes in families with multiple cases of breast and ovarian cancer. Whilst different centres apply different criteria for clinical testing, only approximately 20% of high risk families are found to harbour a mutation in one or other of these genes. Despite intense efforts by the research community, there has been no BRCA3 gene uncovered, nor is there likely to be any other high penetrant breast cancer to be found. More recent research efforts have uncovered more moderate and low risk breast cancer susceptibility genes. It remains to be seen if there is any clinical utility in testing for these low penetrant genes in years to come.More promising are the trials of new drugs called PARP inhibitors that may offer specific advantages in treating breast and ovarian cancer in women who are germline carriers of BRCA gene mutations. Molecular genetics will no doubt continue to shed light on the biology of breast cancer in productive ways in years to come.