Genetic Testing: What Urologists should know

Dear All,

We are in a perplexed state as how best we should proceed once P Ca is diagnosed. We are reaching a stage when personalised treatment should be offered to patients with P Ca and not a generalized way of treatment. No doubt staging, Grade of disease are paramount, it cannot help us in understand the under pinning of aggressiveness the disease might have and not understanding this may result in instituting a non-appropriate treatment option.

With approximately 15% of men with metastatic P Ca having mutations in the germline, this topic has become a focus of interest in early detection, management, and targeted treatment. Testing standards are not in place, and current guidance varies among groups. These clear gaps were addressed with several key takeaway points.

First, testing is recommended in all men with metastatic P Ca and in men with nonmetastatic P Ca who have a family history of P Ca in a first-degree relative and should be considered when select aggressive pathologic features (T3a, intraductal, Gleason score ≥8) exist. If testing is planned, priority genes would include at a minimum BRCA2/BRCA1 and mismatch repair (MMR) genes, or a comprehensive germline panel could be completed with somatic testing for all metastatic patients prior to planned therapy or for clinical trial eligibility.

Second, BRCA2 testing was recommended at a minimum for nonmetastatic patients considering active surveillance.

Third, additional actionable items were addressed based on the results of testing and a focus placed on the need for pretesting informed consent and appropriate genetic counselling with specific attention to genetic counsellor referrals for pathogenic results, collection of family history, and cascade familial testing in consultation with the counsellor.

I am providing Excerpts from two talks 1) Panel discussion -delivered at AUA Virtual Conference 2020 and 2) Presented at the 85th Annual South-eastern Section of AUA. Read together these excerpts will provide us sufficient insights into all we Urologists will have to know regarding ‘Genetic Testing for P Ca’.

For those of us who want more information on the subject, I am also proving a link for the ‘Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019’

Veda N Giri et al, 2020, JCO, 38 (24 Aug 20th): 2798

Both the Excepts provided have taken from the facts mentioned from the consensus conference liberally.

With warm Regards,



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  • Dr. Roy Chally
    Dr. Roy Chally
    21 May 2021 07:43:26 AM

    There are 16 gene mutations, in gene repair genes  associated with CA Prostate. The more frequent( around 50%) mutations seen are BRCA and ATN genes. Testing for all genetic mutations gene repair genes are not practical. HOXB 13 affects AR receptor. 

          These mutations are seen in hereditary forms of cancers. In general population it is seen in less than 5%. Cost benefit ratio not favourable for genetic testing in screening.  
          The link between these mutations and aggressiveness of cancer not well established. Besides in genetic screening  in active surveillance and in all new cases, genetic mutations are seen in less than 20% 
           Genetic testing is helpful in castrate resistant Prostate cancer to choose new medications ( PARB inhibitors) that has come into market. 

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