ArticleCancer2017
Germline genetic variants in men with prostate cancer and one or more additional cancers.
Article in Cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026Article
- Quality of life assessment among ethnically diverse Black prostate cancer survivors: a constructivist grounded theory approach.Journal of cancer survivorship : research and practice · 2025Article
- Health-related quality of life in ethnically diverse Black prostate cancer survivors: a convergent parallel mixed-methods approach.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2024Article
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Innovative Drug Modalities for the Treatment of Advanced Prostate Cancer.Diseases (Basel, Switzerland) · 2024Review
- Quality of Life Assessment Among Ethnically Diverse Black Prostate Cancer Survivors: A Constructivist Grounded Theory Approach.Research square · 2024Article
- Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis.Scientific reports · 2023Article
- Novel ATM Gene c.5644 C > T (p.Arg1882*) Variant Detected in a Patient with Pancreatic Adenocarcinoma and Two Primary Non-Small Cell Lung Adenocarcinomas: A Case ReportDiseases (Basel, Switzerland) · 2022Article
- Identification of ISG15 and ZFP36 as novel hypoxia- and immune-related gene signatures contributing to a new perspective for the treatment of prostate cancer by bioinformatics and experimental verification.Journal of translational medicine · 2022Article
- "I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.Familial cancer · 2022Article
- Emerging roles and potential application of PIWI-interacting RNA in urological tumors.Frontiers in endocrinology · 2022Review
- Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.Journal of clinical medicine · 2021Review
- Causes of Death Among Patients With Metastatic Prostate Cancer in the US From 2000 to 2016.JAMA network open · 2021Article
- Recent Insights on Genetic Testing in Primary Prostate Cancer.Molecular diagnosis & therapy · 2021Review
- Article
- Review
- A novel germline EGFR variant p.R831H causes predisposition to familial CDK12-mutant prostate cancer with tandem duplicator phenotype.Oncogene · 2020Article
- Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.International journal of molecular sciences · 2020Review
- Landscape of BRIP1 molecular lesions in gastrointestinal cancers from published genomic studies.World journal of gastroenterology · 2020Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundProstate cancer has a significant heritable component, and rare deleterious germline variants in certain genes can increase the risk of the disease. The aim of the current study was to describe the prevalence of pathogenic germline variants in cancer-predisposing genes in men with prostate cancer and at least 1 additional primary cancer.
methodsUsing a multigene panel, the authors sequenced germline DNA from 102 men with prostate cancer and at least 1 additional primary cancer who also met ≥1 of the following criteria: 1) age ≤55 years at the time of diagnosis of the first malignancy; 2) rare tumor type or atypical presentation of a common tumor; and/or 3) ≥3 primary malignancies. Cancer family history and clinicopathologic data were independently reviewed by a clinical genetic counselor to determine whether the patient met established criteria for testing for a hereditary cancer syndrome.
resultsSequencing identified approximately 3500 variants. Nine protein-truncating deleterious mutations were found across 6 genes, including BRCA2, ataxia telangiectasia mutated (ATM), mutL homolog 1 (MLH1), BRCA1 interacting protein C-terminal helicase 1 (BRIP1), partner and localizer of BRCA2 (PALB2), and fibroblast growth factor receptor 3 (FGFR3). Likely pathogenic missense variants were identified in checkpoint kinase 2 (CHEK2) and homeobox protein Hox-B13 (HOXB13). In total, 11 of 102 patients (10.8%) were found to have pathogenic or likely pathogenic mutations in cancer-predisposing genes. The majority of these men (64%) did not meet current clinical criteria for germline testing.
conclusionsMen with prostate cancer and at least 1 additional primary cancer are enriched for harboring a germline deleterious mutation in a cancer-predisposing gene that may impact cancer prognosis and treatment, but the majority do not meet current criteria for clinical genetic testing. Cancer 2017;123:3925-32. © 2017 American Cancer Society.
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