ArticleGenome medicine2022
Somatic mutational profiles and germline polygenic risk scores in human cancer.
Article in Genome medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- The current state of polygenic scores for the development of lung cancer: a systematic review and validation in UK Biobank.British journal of cancer · 2026Pooled it
- Clinical characteristic of isolated thrombocytopenia in patients with bone marrow failure-related germline variants: a retrospective study from a single centre.Annals of medicine · 2025Article
- The association between temperament and polygenic score for psychopathology from infancy to middle childhood.Journal of child psychology and psychiatry, and allied disciplines · 2025Article
- Article
- Genomic landscape of cancer in racially and ethnically diverse populations.Nature reviews. Genetics · 2025Review
- Characterizing somatic mutations in ovarian cancer germline risk regions.Communications biology · 2025Article
- Identifying somatic fingerprints of cancers defined by germline and environmental risk factors.Genetic epidemiology · 2024Article
- Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer.American journal of human genetics · 2024Article
- Article
- Molecular and immune characterization of Chinese early-stage non-squamous non-small cell lung cancer: a multi-omics cohort study.Translational lung cancer research · 2024Article
- A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden.American journal of human genetics · 2024Article
- Germline mutation rate predicts cancer mortality across 37 vertebrate species.Evolution, medicine, and public health · 2024Article
- The role of mitochondria-related lncRNAs in characterizing the immune landscape and supervising the prognosis of osteosarcoma.Journal of bone oncology · 2023Article
- Carcinoma of unknown primary (CUP): an update for histopathologists.Cancer metastasis reviews · 2023Review
- Population-specific Mutation Patterns in Breast Tumors from African American, European American, and Kenyan Patients.Cancer research communications · 2023Article
- Review
- Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.International journal of molecular sciences · 2023Article
- Germline Cancer Gene Expression Quantitative Trait Loci Are Associated with Local and Global Tumor Mutations.Cancer research · 2023Article
- Evaluation ofTranslational andrology and urology · 2022Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe mutational profile of cancer reflects the activity of the mutagenic processes which have been operative throughout the lineage of the cancer cell. These processes leave characteristic profiles of somatic mutations called mutational signatures. Mutational signatures, including single-base substitution (SBS) signatures, may reflect the effects of exogenous or endogenous exposures.
methodsWe used polygenic risk scores (PRS) to summarize common germline variation associated with cancer risk and other cancer-related traits and examined the association between somatic mutational profiles and germline PRS in 12 cancer types from The Cancer Genome Atlas. Somatic mutational profiles were constructed from whole-exome sequencing data of primary tumors. PRS were calculated for the 12 selected cancer types and 9 non-cancer traits, including cancer risk determinants, hormonal factors, and immune-mediated inflammatory diseases, using germline genetic data and published summary statistics from genome-wide association studies.
resultsWe found 17 statistically significant associations between somatic mutational profiles and germline PRS after Bonferroni correction (p < 3.15 × 10
conclusionsOur analysis suggests that there are robust associations between tumor somatic mutational profiles and germline PRS. These may reflect the mechanisms through hormone regulation and immune responses that contribute to cancer etiology and drive cancer progression.
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