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New genetic drivers of breast cancer identified

March 11, 2016

A major international study published in Nature Genetics has identified 26 genetic variants, or genetic ‘typos’, which predispose women to developing different subtypes of breast cancer.

The study, which examined DNA from nearly 119 000 women, was co-led by Dr Stacey Edwards, the Head of the Functional Cancer Genomics Laboratory at QIMR Berghofer. It was funded by the National Health and Medical Research Council and the National Breast Cancer Foundation.

Dr Edwards and her international collaborators focused on one of the approximately 170 regions of the genome that increase a woman’s risk of developing breast cancer. The location of gene ESR1 is one of the most highly studied in the field of breast cancer research, and is one of the most significant in determining a woman’s risk of developing breast cancer.

Dr Edwards said the study’s findings were significant.

“In this study, we have identified 26 new genetic variants that increase a woman’s risk of developing several different subtypes of breast cancer.”

The researchers found that the variants did so by influencing the expression of ESR1 and two other genes.

“This is the first time we’ve narrowed down the individual DNA changes at this region that we think are influencing the expression of that particular gene and increasing the risk of developing different subtypes of breast cancer.”

“As well, this is the first time researchers have been able to show that specific genetic variants increase a woman’s risk of developing the subtype of breast cancer known as ER-/PR-/HER2+.”

“Until now we didn’t know there was a genetic basis for this rare and treatable subtype of breast cancer.”

Dr Edwards said in future the findings would help doctors to predict those at a higher risk of developing breast cancer.

“These genetic variants will be included in future genetic tests and will help to predict if a woman is at a high risk of developing breast cancer, and, if so, what subtype of breast cancer she is likely to develop,” Dr Edwards said.

The original news article was published on the at QIMR Berghofer website. Cover image of Dr Edwards courtesy of QMRI Berghofer.

The Australian Cancer Research Foundation has supported cancer research at QMRI Berghofer by providing three grants, totalling AUD 6.65million towards cutting edge cancer research equipment and technology.

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