Premium
BS01
WHAT NEXT FOR BREAST CANCER GENE TESTING?
Author(s) -
Gattas M. R.
Publication year - 2009
Publication title -
anz journal of surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.426
H-Index - 70
eISSN - 1445-2197
pISSN - 1445-1433
DOI - 10.1111/j.1445-2197.2009.04913_1.x
Subject(s) - breast cancer , medicine , ovarian cancer , genetic testing , gene , clinical trial , germline mutation , palb2 , bioinformatics , genetics , cancer , mutation , oncology , biology
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.