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. 2021 Aug 3;12(16):1600–1614. doi: 10.18632/oncotarget.28015

Table 3. Comparison of gene testing strategies [9, 43].

Method of testing Sample required Advantages Limitations
Germline Testing Blood or saliva

• Germline mutations detected reliably

• Large panels of tests available which can detect germline mutations in mCRPC

• Unable to detect somatic mutations relevant to treatment selection

Somatic Testing Tumor Tissue/metastatic tissue

• Can detect germline and somatic mutations, which might be relevant for initiating targeted therapies

• Provides information about translocations and amplifications

• A multigene panel of tests available with testing for >300 genes possible

• Tumor heterogeneity might result in missing late somatic mutations especially if testing is conducted on archival sample

• Somatic testing is less sensitive, and thus robustly validated somatic testing is required

Circulating Tumor DNA (ctDNA) Plasma

• Can identify germline and somatic mutations relevant for targeted therapies

• Minimally invasive process for sample collection as the biomaterial required is blood

• Provides insight into the subclonal population that may be more relevant to current disease state

• Not enough evidence about shedding pattern of ctDNA in blood circulation in mCRPC

• Availability of robustly validated HRR gene panel test

• Panels may not have nonactionable genes still relevant for PCa

• Chance of missing a germline variant if not sequencing the whole gene due to small size of ctDNA

Abbreviations: mCRPC: metastatic castration-resistant prostate cancer; ctDNA: circulating tumor DNA; PCa: prostate cancer.