ArticleScience advances2020
Germline genomic patterns are associated with cancer risk, oncogenic pathways, and clinical outcomes.
Article in Science advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Multi-omics-driven precision medicine.iMeta · 2026Review
- Article
- Unsupervised Deep Representation Learning and Probabilistic Clustering for the Systems-Level Discovery of Germline Mutation Signatures in Pediatric Cancers.Biomedicines · 2026Article
- Clonal Hematopoiesis and Solid Cancers.Cancer science · 2025Review
- Anatomy and Function of Deleted in Azoospermia Like (DAZL) Gene in Human and Mouse.Development & reproduction · 2025Article
- Report of an Extremely Rare Case of BRCA-Positive Head and Neck Cancer: A New Disease on the Horizon?Cureus · 2025Article
- Breast Tumor Metastasis and Its Microenvironment: It Takes Both Seed and Soil to Grow a Tumor and Target It for Treatment.Cancers · 2024Review
- Exploring the Role of Non-synonymous and Deleterious Variants Identified in Colorectal Cancer: A Multi-dimensional Computational Scrutiny of Exomes.Current genomics · 2024Article
- Kinase Insert Domain Receptor Q472H Pathogenic Germline Variant Impacts Melanoma Tumor Growth and Patient Treatment Outcomes.Cancers · 2023Article
- Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.NPJ genomic medicine · 2023Article
- Neurodevelopmental disorders and cancer networks share pathways; but differ in mechanisms, signaling strength, and outcome.bioRxiv : the preprint server for biology · 2023Article
- Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach.Cancer research communications · 2023Article
- Unveiling pathogenic mutations in BRCA1 and BRCA2 genes across head and neck squamous cell carcinoma patients via next generation sequencing.American journal of cancer research · 2023Article
- Comprehensive genomic profiling reveals prognostic signatures and insights into the molecular landscape of colorectal cancer.Frontiers in oncology · 2023Article
- Role of germline variants in the metastasis of breast carcinomas.Oncotarget · 2022Article
- Macrophage scavenger receptors: Tumor support and tumor inhibition.Frontiers in oncology · 2022Review
- Informative SNP Selection Based on a Fuzzy Clustering and Improved Binary Particle Swarm Optimization Algorithm.Computational and mathematical methods in medicine · 2022Article
- Immune Microenvironment and Response in Prostate Cancer Using Large Population Cohorts.Frontiers in immunology · 2021Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There is an ongoing debate on the importance of genetic factors in cancer development, where gene-centered cancer predisposition seems to show that only 5 to 10% of the cancer cases are inheritable. By conducting a systematic analysis of germline genomes of 9712 cancer patients representing 22 common cancer types along with 16,670 noncancer individuals, we identified seven cancer-associated germline genomic patterns (CGGPs), which summarized trinucleotide mutational spectra of germline genomes. A few CGGPs were consistently enriched in the germline genomes of patients whose tumors had smoking signatures or correlated with oncogenesis- and genome instability-related mutations. Furthermore, subgroups defined by the CGGPs were significantly associated with distinct oncogenic pathways, tumor histological subtypes, and prognosis in 13 common cancer types, suggesting that germline genomic patterns enable to inform treatment and clinical outcomes. These results provided evidence that cancer risk and clinical outcomes could be encoded in germline genomes.
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