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KEY POINT: Patients with a family history of malignancy may warrant further urologic evaluation and genetic testing after appropriate counselling.

The association between family history and development of cancer is well established, but recently this is becoming more refined as we begin to understand the molecular genetics of cancer. There has been a concurrent rise in the amount of genetic testing available for patients diagnosed with cancer. The strong links between BRCA1/2 and breast and prostate cancer have been well reported. International cancer guidelines are acknowledging the role of inheritance in cancer. An example is the recent addition to the National Comprehensive Cancer Network (NCCN) Guidelines that all men diagnosed with “high risk” prostate cancer should be considered for genetic testing given the implications for their loved ones.

Commercial “self testing” home kits such as 23andMeTM are widely available in the United States and may increase in popularity in Australia. The ultimate effect of all of the above will be an increased number of patients presenting to their doctors wanting answers about their family history and potential future health.

Genetic counsellors play a pivotal role in investigation of these patients, but access in Queensland is currently limited. In general, genetic testing should be performed on the affected individual prior to any at-risk family members.

Urological cancers with a proven genetic predisposition include prostate cancer, renal cell cancer and urothelial cancer of the kidneys and ureters. The following family history may suggest a genetic predisposition to Urologic cancer:

Prostate Cancer

• Direct relatives diagnosed with prostate cancer below the age of 50
• Direct relatives diagnosed with metastatic prostate cancer or “High Risk” prostate cancer
• Direct relatives diagnosed with breast or ovarian Cancer
• Direct relatives testing positive for BRCA 1 or 2

Renal Cell Cancer

• Direct relatives diagnosed with kidney cancer before the age of 50
• Direct relatives with certain genetic disorders including but not limited to: Birt Hogg Dube Syndrome, Von Hippel Lindau Syndrome or Tuberous Sclerosis
• Suggested Urology Screening tests? – Ultrasound KUB or CT Urogram

Urothelial cancer

• Direct relatives with diagnosis of Lynch Syndrome (which gives a predisposition to colorectal cancer)
• Suggested Urology Screening tests? – Urinalysis, Urine Cytology, Ultrasound KUB or CT Urogram and Cystoscopy

Although rare, familial cancer syndromes are likely to become more topical and patients will turn to their GPs for initial assessment. Early detection can result in good outcomes for the patient as well as their family members. It is important to remember that patients with non-urologic cancer can be predisposed to certain urologic cancer.

At Brisbane Urology Clinic, we work in collaboration with other specialists to ensure a multidisciplinary approach to cancer patients and their relatives. We can offer appropriate counselling for screening for Urological malignancy as well as onward referral to appropriate specialists for your patients.

For all appointments and enquiries please call 07 3830 3300