While the much welcomed recommendations on testing for prostate cancer provide clarity, there was a significant omission, according to Allan Spigelman, an expert in cancer genetics.

He says there were no recommendations for men with the BRCA gene mutation.

Spigelman, a professor at the University of New South Wales and Director Cancer Genetics, St Vincent’s Hospital, Sydney, says there is no doubt that men with this mutation are at increased risk of prostate cancer.

When they do get the cancer, it is more aggressive than in their peers who have cancer but no BRCA mutation.

Called PSA Testing and Early Management of Test-detected Prostate Cancer, they mention BRCA in the introduction but not in the recommendations.

Spigelman says thousands of Australian men have the BRCA mutation without knowing it.

Although it is possible to have it without a family history, he recommends men examine their family for cases of breast, ovarian and prostate cancer. Finding prostate cancer in a man under 50 should ring alarm bells.

While some may be hesitant about discovering what their genes have in store and are concerned about the implications for issues such as life insurance, Spigelman says a visit to a counsellor is worthwhile.

PROS AND CONS OF TESTING

At the initial visit the pros and cons for testing are laid out so that their decision to proceed, or not, will be based on sound, evidence-based information.

 “I told him if his PSA ever rose, he would be at risk of aggressive prostate cancer and should seek a referral to a urologist. It rose and he went to a urologist who suggested they watch and wait.”

“The man remembered what I’d said and sought me out at the Kinghorn [Cancer Centre in Darlinghurst]. I referred him to a local urologist who investigated and then operated.”

The tumour turned out to be highly aggressive. Had he continued to watch and wait, he may have progressed to metastatic disease.

While the guideline’s recommendations cover men with a family history of prostate cancer, Spigelman says this is not specific enough as ovarian and breast cancers are significant too.

“Finding a BRCA mutation in a male with prostate cancer opens up predictive testing for females as well as males in his family – which can allow for prevention and/or early diagnosis of breast and ovarian cancer in female relatives, as well as prostate cancer in males”.

He regards the omission as a lost opportunity to educate professionals and the public about the risks of BRCA and the need to refer.

INCREASED SURVIVAL UNDETERMINED

While there are no studies yet to show that screening men for BRCA increases survival, there are studies showing survival is worse for BRCA prostate cancer patients than non-BRCA patients.

Spigelman believes the findings of existing studies as well as the impact of predictive testing should have merited a more detailed mention in the guidelines.

“Certainly, BRCA testing in women and resulting treatment has improved survival from breast cancer death significantly.”

Anthony Lowe, associate professor and CEO of the Prostate Cancer Foundation which produced the guidelines with the Cancer Council Australia, says in addition to family history, there are other known risk factors for prostate cancer such as the BRCA gene mutations, the HOXB13 genetic variant and ethnicity.”

“The guidelines do give guidance on PSA testing in men at high risk but not BRCA specifically. We plan to address that in future editions.”