It’s the deadliest cancer for Australian men. This test could be life-saving for many, and their daughters

Ross Lamb vaguely recalls something about a famous actress, a gene mutation and breast cancer.

But the 62-year-old had no inkling that Angelina Jolie’s double mastectomy had anything to do with his prostate cancer. Until he phoned his aunt.

“Doctors kept asking me if I had a history, and I always said ‘no, this came out of the blue’,” Lamb said of his diagnosis with aggressive prostate cancer in December 2021.

“Then, called my aunt, and she gave me the background.”

Lamb’s paternal grandmother died of breast cancer in the 1940s. His aunt had breast cancer and carried the BRCA2 mutation, which is linked to a breast cancer risk of 45 to 65 per cent, more than three times higher than the general population.

Her three children also had the mutation. Her two daughters had breast cancer (one has passed away). Her son – Lamb’s cousin – had prostate cancer.

“She told me to go and get tested for BRCA2, and I was positive,” Lamb said.

Inherited genetic mutations are the cause of between 5 and 15 per cent of prostate cancers, the most commonly diagnosed cancer and the second leading cause of cancer death in Australian men.

About 10 to 12 per cent of men with metastatic prostate cancer carry BRCA1/2 mutations.

Lamb immediately thought of his two daughters, Eleanor and Matilda. Eleanor was pregnant with twins. She didn’t need any further stress.

“I was dreading the thought that I’d passed this down to them and my grandkids,” Lamb said.

He and his wife, Lindsay, waited until the twins, Harvey and Adeline, were born to tell their daughters.

“When they came back negative, it was the greatest day of my life after my wedding day and my kids’ births,” said Lamb, now 66.

“It means it stopped with me,” he said, thinking of his grandchildren, the twins, their eight-week-old brother, Arlo, and Matilda’s baby due in September.

Too many men and their families are missing out on potentially life-saving testing and treatments because Australia lacks a national framework to guide genetic testing eligibility and access for prostate cancer, the authors of a national consensus paper say.

“Every year without reform is another year [when] men with hereditary prostate cancer miss earlier diagnosis and targeted treatment, and their families miss life-saving prevention,” said the paper’s lead investigator, Professor Haitham Tuffaha, the University of Queensland’s Effective and Efficient Healthcare program lead

The first study to examine Australia’s genetic testing recommendations for prostate cancer found significant uncertainty among clinicians about which patients to refer for testing and how to do so, as well as major gaps in access to the rapidly evolving technology and counselling.

Meanwhile, patients, families, healthcare professionals, and researchers want Medicare-subsidised testing expanded beyond men with castration-resistant disease who are candidates for targeted treatment (primarily BRCA carriers), the authors reported in academic journal Familial Cancer.

An analysis of Medicare data showed few men with metastatic prostate cancer are taking up BRCA1/2 testing, despite the test determining whether they are eligible for targeted therapies, including subsidised PARP inhibitor cancer drugs.

“Clinicians need clearer national guidance, better systems and workforce support to deliver it effectively,” Tuffaha wrote.

Prostate Cancer Foundation of Australia (PCFA) chief executive Anne Savage said a unified national framework must be a priority, covering eligibility criteria, the types of genes tested and how, consent processes and cascade testing (in which immediate family members are also offered testing).

“We cannot afford to ignore the opportunity to completely transform survivorship outcomes for Australian men and their families,” Savage said.

Professor David Thomas, chief science officer of Omico, which provides free genomic testing for advanced and incurable cancer patients, said precision medicine was increasingly critical for prostate cancer patients beyond BRCA mutations.

Just over 10 per cent of Omico’s prostate cancer patient cohort had gene mutations detected via germline testing (which analyses DNA from healthy cells in the blood). Roughly 8 per cent had BRCA mutations, and about 4 per cent had Lynch syndrome, caused by mutations in DNA mismatch repair genes.

Thomas said 10 per cent was the “magic number” when testing starts to become “common sense”.

“This is just the tip of the iceberg,” said the medical oncologist, who was himself diagnosed with prostate cancer in 2023.

There is another group of prostate cancer patients who don’t have these gene mutations, but when Omico analysed their cancer tumour tissue, they found a type of impaired DNA repair called homologous recombination deficiency (HRD).

“HRD is the final product of those BRCA gene mutations,” Thomas said. “Clearly, some patients who have HRD but lack BRCA mutations have something else going on that produces the same consequence in the tumour as the mutations.”

This is important, Thomas said, because HRD predicts how well the PARP inhibitors work in prostate cancer, and immunotherapies are “exquisitely potent” for Lynch syndrome prostate cancers.

“Collectively, a sizable number of these people who may benefit from targeted treatments available to those with BRCA and Lynch syndrome genetic mutations,” he said.

By the time Lamb was diagnosed, his cancer had spread to his lymph nodes and abdomen. It had been just nine months since his last PSA test.

He underwent a radical prostatectomy followed by 32 rounds of radiotherapy, and is on a “brutal” hormone therapy regimen.

“Had I known about the genetic risk, I’d have been having three or six monthly PSA tests, and maybe it would have been found earlier,” he said.

Cancer Australia assembled a national prostate cancer expert advisory group in March, whose remit includes inequity of access and early detection. It, alongside Genomics Australia, has submitted a proposal to the Medical Services Advisory Committee to expand Medicare funding for prostate cancer genetic testing.

A Cancer Australia spokesman said the proposal would allow testing certain people with prostate cancer-related genes and testing for family members if a gene fault is found.

PCFA launched a nationwide survey to understand what the public and healthcare professionals know about genetic testing and its use.

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