How the discovery of a genetic mutation saved a bloodline

Her defeat of cancer over 20 years ago, as triumphant and valiant as it was, was only half the battle.

After a gene mutation, which increased the likelihood of cancer growth, was identified, suddenly her entire family was aware that cancer was no mere statistic or faraway idea, it was a bad neighbour that the Batemans would have to live alongside for a very long time.

However, its detection in Narelle may have just saved some of her loved ones from what she had to go through herself.

It began with a slight twinge in her breast, then an instinct to get it checked, a diagnosis and a surgery that saved her life, but a question stuck in her head: how did she get cancer?

“We didn’t know where it came from … I was (at the time) the only one in the family that got struck down with (cancer) so they offered the genetic testing,” Narelle said.

After her full mastectomy and TRAM (transverse rectus abdominus myocutaneous) flap breast reconstruction, which removed her cancer, she and her mum, Lucille Urquhart, participated in blood tests at Austin Hospital, which uncovered that they shared a BRCA2 gene mutation.

The discovery sent shockwaves through her family as they learned that this dangerous mutation could also course through their own blood.

Dr Ainsley Campbell has been the director of genetics at Austin Hospital since 2020, and has guided families such as Narelle’s through the complexities of genetic testing.

She explained that the BRCA2 gene was something that all humans had; however, a mutation led to high risks of breast and ovarian cancers, predominantly.

She said when patients were identified with having a gene mutation, doctors would discuss risk management options such as regular breast cancer surveillance, the option of preventative breast surgery and preventative surgery where they removed ovaries and fallopian tubes in patients between the ages of 40 and 45.

She said picking up the mutation as early as possible was key to prevention and early detection of cancer.

“After we have identified that they carry a (gene mutation) then we can take steps to prevent breast cancer in that person,” she said.

“It’s a really powerful thing to be able to offer various ways to manage cancer risk for them.”

Dr Campbell said men who carried a BRCA2 gene mutation were at increased risk of developing prostate cancer and had increased (but still low) risk of breast cancer.

In a heart-wrenching turn of events, Lucille’s preventative surgery in 2010 revealed the early stages of ovarian cancer.

After fighting vigilantly for 10 years, Lucille lost her battle with cancer, passing away on March 11, 2020.

It was a tough blow to the family and a startling reminder of the consequences that the genetic mutation could have.

Narelle said she was glad her cancer and genetic mutation detection could now act as knowledge to be passed down to future generations.

Narelle’s sister, Vicky, and daughter Tamara will undergo preventative surgeries of their own after finding the same mutation in their genes.

“Everyone knows what to do now, they’ve all been made aware,” Narelle said.

“This cancer has taken a lot — it’s taken my womanhood, it’s taken away a chance to have more children, and it’s taken Tamara’s childhood away because I was sick for so long.

“But, I’ve also gained a beautiful granddaughter and the potential for everyone in my family to live with understanding that this gene mutation is possible, and it makes me feel quite at ease.”

Read more online about Narelle’s defeat of cancer and how 20 years on, she is stronger than ever.