October 31, 2011  Print

Australian women have contributed to a global study that has discovered another piece of the breast cancer puzzle.

The study is published today in Nature Genetics, and has found that a common DNA variant is associated with a type of breast cancer, estrogen receptor-negative breast cancer. The study was lead by the Mayo Clinic in Rochester, Minnesota, and the Norris Comprehensive Cancer Centre, California.

The initial study used approximately 3,000 women with breast cancer and 6,000 controls, while a second validation study used approximately 2,000 with breast cancer and 17,000 controls. Some of the study samples came from the Australian Breast Cancer Tissue Bank at Westmead Millennium Institute for Medical Research, University of Sydney.

Tissue bank director Professor Christine Clarke says Australian women who have contributed samples to the tissue bank would be pleased to know of their role.

“The way to get these large numbers is to bring together samples collected by tissue banks from all around the world.

“That’s the power of tissue banks – providing biospecimens that can help to identify risk factors at the genetic level that will eventually lead to a clearer picture of the disease. In order to understand the full picture in terms of the genetic susceptibility, we do need to find all of these variants associated with small increased risk. It’s only when we understand the full landscape that we can use the information to help women manage breast cancer risk.”

Prof Clarke says the next step in the research is to find what the variant does and how it contributes to increased risk of ER-negative breast cancer.

Dr Alison Butt, Director, Research Investment at the National Breast Cancer Foundation, which helps to fund the Australian Breast Cancer Tissue Bank, says "Women are delighted to donate tissue to the bank, because they hope something good will come of it. The faith that women place in donating their material so that others can use it for research is something researchers are honouring, by making them available for these large studies that are starting yield results."

"Every little step towards finding what causes breast cancer is a huge step to me. I don't want my daughters or anyone else to have to go through what I and my family have been through." says breast cancer survivor and NBCF ambassador Claudia Kassis.


The title of the paper is: A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer” by Couch