Breast Cancer is the most common cancer among women and the genetic cause of breast cancer is the source of much enquiry. The discovery of high risk mutations in BRCA1 and 2 genes in the 1990’s identified the cause of breast cancer in approximately 3% of the population. A further series of investigations have implicated moderate risk genes and a new series of studies have now identified 41 new low penetrance breast cancer susceptibility alleles.
This latest study which was published online in Nature Genetics last weekend is a very extensive analysis of 10,052* breast cancer cases and 12,575 control cases of European ancestry. The results analysed more than 200,000 SNPs (single nucleotide polymorphisms) and showed that 41 of these are strongly associated with breast cancer susceptibility. In addition, genetic links between breast, prostate and ovarian cancer were identified. This represents a great advance in our understanding of these cancers which together affect more than 2.5 million people worldwide annually.
The study which is a collaboration involving multiple international research centres and genetic consortia is the largest genetic association study in cancer so far. Professor Michael Kerin from NUI Galway who along with Dr Nicola Miller from the Discipline of Surgery, NUI Galway contributed to the study and stated that this study identifies important genetic variation that can predispose to breast cancer.
“The study is also important in providing evidence for distinct pathways in ER negative breast cancer. All of this information has great potential both for breast cancer prevention and providing new targets for therapy.” Professor Kerin continued “We are very fortunate here in NUI Galway that we have a large biobank of tissues and bloods that have been contributed by our patients in the Breast Programme and with the support of the National Breast Cancer Research Institute we have been able to contribute to this major international research collaboration which sheds very valuable new light on this important area and opens new avenues for therapy."