Breast cancer in Australia: Breast cancer genetics

Angelina Jolie: I feel great, I feel wonderful, and I'm very, very grateful for all the support, it's meant a lot to me. I've been very happy just to see the discussion about women's health expanded and that means the world to me, and after losing my mom to these issues I'm very grateful for it, and I've been very moved by the kind support from people, really very grateful for it.

Joel Werner: Hi, and welcome to the Health Report. I'm Joel Werner. And that was Angelina Jolie. It's been almost a month since she announced via a New York Times op-ed that she'd chosen to have a preventative double mastectomy, a decision reached after learning she carried a mutation on the BRCA1, or Braca-one gene. It was a revelation that resonated around the globe.

Clara Gaff: I thought it was very courageous of her to make public what for many people is a very private decision, and to let people know what was possible and to encourage people in similar situations to her to find out what their situation is and make their own choices.

Joel Werner: Associate Professor Clara Gaff is a genetic counsellor. She's also manager of genomic medicine at the Walter and Eliza Hall Institute for Medical Research. While Clara's reaction to Jolie's Times article epitomised that of many, her colleague Professor Geoff Lindeman wasn't quite so absolute in his praise.

Geoff Lindeman: I think it was somewhat of a mixed blessing. It's always good to have appropriate publicity in this area so that people can be aware, but similarly I think many women must have felt that they had the sword of Damocles hanging over their heads, and that's not necessarily the case for the vast majority of women and even for women who have mutations in the BRCA1 or 2 genes.

Joel Werner: Today on the Health Report it's part two in our special on breast cancer in Australia, and this week we're examining the role genetics plays in the diagnosis and treatment of the disease.

Over the past month, BRCA1 and 2 have been the most heavily publicised genes in the world; celebrity alleles of the human genome. But have you stopped to ask yourself what they actually are? Or how they influence the development of cancer?

Geoff Lindeman is head of the familial cancer centre at Melbourne Hospital, and joint head of breast cancer research at the Walter and Eliza Hall Institute.

Geoff Lindeman: So these were genes that were discovered in the mid-1990s that were identified through women who had a very high risk of breast or ovarian cancer running in their families. The discovery of these genes really helped us to understand their role in helping keep cancer in check. They are basically suppressor genes which help repair DNA in our genome that has become damaged. And for reasons that we still don't fully understand, breast and ovarian cancer are quite prominent amongst the things that can go wrong when there is a fault in these genes.

Joel Werner: And that's the thing, it's when you have mutations in these genes that things go wrong.

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Breast cancer in Australia: Breast cancer genetics