ArticlePLoS genetics2018
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 3 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 3 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Polymorphism rs1801516 (G > A) in theThe Journal of international medical research · 2020Pooled it
- ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis.BMC medical genetics · 2019Pooled it
- Prognostic Role of DNA Damage Response Genes Mutations and their Association With the Sensitivity of Olaparib in Prostate Cancer Patients.Cancer control : journal of the Moffitt Cancer CenterPooled it
- Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.Haematologica · 2019Trial
- Presence of recombination hotspots throughout SLC6A3.PloS one · 2019Trial
- Prostate cancer initially misdiagnosed as prostatic abscess in a 36-year-old kidney transplant recipient.Current therapeutic research, clinical and experimental · 2026Article
- Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.Nature communications · 2025Article
- Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.Journal of clinical & translational endocrinology · 2025Article
- Azoospermia/Oligozoospermia and Prostate Cancer Are Increased in Families of Women With Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2025Article
- Effects of hydrazone-based G-quadruplex ligands onNAR cancer · 2025Article
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- BUB1B monoallelic germline variants contribute to prostate cancer predisposition by triggering chromosomal instability.Journal of biomedical science · 2024Article
- Article
- Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.Scientific reports · 2024Article
- FANCJ DNA helicase is recruited to the replisome by AND-1 to ensure genome stability.EMBO reports · 2024Article
- Prostate cancer genetic background. The introduction of genetic testing in the determination of high-risk prostate cancer cases and selection of targeted chemotherapy in advanced prostate cancer patients.Central European journal of urology · 2024Review
- 2023 Canadian Urological Association guideline: Genetic testing in prostate cancer.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2023Article
- Research of Prostate Cancer Urinary Diagnostic Biomarkers by Proteomics: The Noteworthy Influence of Inflammation.Diagnostics (Basel, Switzerland) · 2023Article
- Response to bipolar androgen therapy and PD-1 inhibition in a patient with metastatic castration-resistant prostate cancer and a germlineBMJ case reports · 2023Article
- Fanconi anemia pathway regulation by FANCI in prostate cancer.Frontiers in oncology · 2023Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Considering that mutations in known prostate cancer (PrCa) predisposition genes, including those responsible for hereditary breast/ovarian cancer and Lynch syndromes, explain less than 5% of early-onset/familial PrCa, we have sequenced 94 genes associated with cancer predisposition using next generation sequencing (NGS) in a series of 121 PrCa patients. We found monoallelic truncating/functionally deleterious mutations in seven genes, including ATM and CHEK2, which have previously been associated with PrCa predisposition, and five new candidate PrCa associated genes involved in cancer predisposing recessive disorders, namely RAD51C, FANCD2, FANCI, CEP57 and RECQL4. Furthermore, using in silico pathogenicity prediction of missense variants among 18 genes associated with breast/ovarian cancer and/or Lynch syndrome, followed by KASP genotyping in 710 healthy controls, we identified "likely pathogenic" missense variants in ATM, BRIP1, CHEK2 and TP53. In conclusion, this study has identified putative PrCa predisposing germline mutations in 14.9% of early-onset/familial PrCa patients. Further data will be necessary to confirm the genetic heterogeneity of inherited PrCa predisposition hinted in this study.
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