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Article Abstract
Objective: Germline pathogenic variants (PVs) are known to cause ~4% of prostate cancer, but other homologous repair genes, and Lynch syndrome genes are also involved. Our objective was to assess the contribution of germline and somatic gene variants to prostate cancer.
Methods And Analysis: We reviewed germline/tumour DNA testing from 450 localised or metastatic prostate cancer cases in NW England mainly from 2022 to 2024. ORs for additional genes used detection rates in controls from the BRIDGES study.
Results: 450 cases underwent germline/somatic testing with 2 germline PVs in (0.4%) and 27 in (6.0%)-total 6.4% and 6/328 (1.8%) in . There were 280 metastatic prostate cancer samples tested with 11 (4%) somatic and 7 (2.7%) somatic identified with 1 somatic . Total PVs in were 31/280 (11%), including germline and indeterminate. somatic PVs were found in 9/220 (4.1%), including 2 digenic with and 2 which were biallelic.
Conclusion: In this continuous clinical evaluation, is the most frequently identified prostate cancer gene with over 10% involvement in metastatic disease. and somatic PVs do not appear to be mutually exclusive. does not appear to be a significant contributor to prostate cancer progression.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880781 | PMC |
| http://dx.doi.org/10.1136/bmjonc-2024-000592 | DOI Listing |
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