Forewarned is forearmed when there’s cancer in the family tree

Sarah Singer’s gene mutation was inherited from her father, who succumbed to pancreatic cancer last December.

Sarah and Howard Singer with daughters Mia and Lila. Picture: David Geraghty

When Sarah Singer contracted breast cancer 15 years ago, aged 32 and nursing 16-month-old daughter Mia, she didn’t give inherited causes much thought. A grandmother had died from the disease, but she had first contracted it in her 60s.

A year later, Singer’s oncologist proposed an investigation of her family tree. Research revealed that two great-aunts had died of ovarian cancer, and two great uncles had died from prostate cancer.

Singer subsequently tested positive for a mutation of the BRCA1 gene, which has been linked with breast, ovarian, pancreatic and prostate cancers, among others. The mutation turned out to have been inherited from her father, who succumbed to pancreatic cancer last December.

Extended relatives also have battled breast cancer. “Unfortunately it’s a strong family thing,” Singer says.

Now a volunteer with the National Breast Cancer Foundation, she guarded against further tumours by having her breasts and ovaries removed, but not until second child Lila had arrived. Now her thoughts are focused on the futures of her daughters, aged 16 and 11.

“Both girls will need to be tested — it’s imperative that they are — but the suggestion is that we wait until they’re around 20,” she says. “It’s OK finding out you have the gene, but it’s what you do with the information and how you deal with it afterwards. Once you know, it’s a bit of a ticking time bomb.

“When you’re diagnosed and go through everything, the initial thought is, why me? But I now know why it happened, and I’m relieved I know why it happened.”

Queensland-led research, published last week, unravels more of the mystery of the interplay of genes that contribute to breast cancer. It implicated 72 new genetic variants, providing additional information that could help women with BRCA mutations decide if they need prophylactic surgery and if so, when.

Singer says genetic advances have made her feel empowered.

“In terms of my kids, it’s in our hands,’’ she says.

“ I don’t want them to go through that situation where you actually have breast or ovarian cancer. I’d like to feel we can take steps to prevent it, if the science lets us do that.”

She says it is hard to predict the genomic tools that will be available when the time comes for her daughters to be tested.

“The next 10 years, who knows? The advances have been amazing so far. You know they’re just going to take things forward again.”