The following is a summary of “Germline genetic variants associated with somatic TMPRSS2:ERG fusion status in prostate cancer: a genome-wide association study,” published in the August 2023 issue of Oncology by Ma et al.

TMPRSS2:ERG fusion is a distinct prostate cancer subtype with few known genetic associations. Researchers performed a retrospective study to identify germline genetic variants associated with the presence of the TMPRSS2:ERG fusion gene in prostate cancer.

The study involved 396 cases with TMPRSS2:ERG(+) status, 390 cases with TMPRSS2:ERG(-) status, and 2,386 cancer-free controls. These individuals were sourced from the Physicians’ Health Study (PHS), the Health Professionals Follow-up Study (HPFS), and the Fred Hutchinson (FH) Cancer Center Prostate Cancer Study based in Seattle. Through logistic regression models, they assessed the connections between approximately 5 million single nucleotide polymorphisms (SNPs) and TMPRSS2:ERG fusion status, while considering population stratification.

In this study, no genome-wide significant variants were discovered when comparing TMPRSS2:ERG(+) and TMPRSS2:ERG(-) prostate cancer cases. However, in the comparison between TMPRSS2:ERG(+) prostate cancer cases and controls without prostate cancer, the meta-analysis revealed 10 significant genome-wide SNPs located on chromosome 17q24.3. In the comparison of TMPRSS2:ERG(-) prostate cancer cases with controls without prostate cancer, two SNPs on chromosome 8q24.21 reached genome-wide significance.

The study found SNPs linked to prostate cancer risk loci (17q24.3, 1q32.1, and 8q24.21) exclusively linked to developing tumors with or without gene fusion.

Source: pubmed.ncbi.nlm.nih.gov/37555839/