ArticleCancer genetics2019
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.
Article in Cancer genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care.European journal of human genetics : EJHG · 2026Review
- What's hidden in plain sight? Impact of clonal hematopoiesis on the risk and progression of nonhematologic cancers.Haematologica · 2026Review
- Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models.European urology open science · 2025Article
- Identification of a MosaicCase reports in genetics · 2025Article
- Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.Journal of neurology · 2024Article
- [The role of clonal hematopoiesis in the molecular diagnostics of solid tumors].Magyar onkologia · 2024Review
- Clinical utility of BRCA and ATM mutation status in circulating tumour DNA for treatment selection in advanced pancreatic cancer.British journal of cancer · 2024Article
- Associations Between Cancer Predisposition Mutations and Clonal Hematopoiesis in Patients With Solid Tumors.JCO precision oncology · 2023Article
- Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.American journal of human genetics · 2023Article
- Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Circulating Tumor DNA in Precision Oncology and Its Applications in Colorectal Cancer.International journal of molecular sciences · 2022Review
- When are idiopathic and clonal cytopenias of unknown significance (ICUS or CCUS)?Hematology. American Society of Hematology. Education Program · 2021Review
- Incidental findings from cancer next generation sequencing panels.NPJ genomic medicine · 2021Article
- Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Molecular Features and Clinical Management of Hereditary Gynecological Cancers.International journal of molecular sciences · 2020Review
- Genetic cancer predisposition syndromes among older adults.Journal of geriatric oncology · 2020Review
- Genomic profiling in oncology clinical practice.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2020Review
- Clonal hematopoiesis in cancer.Experimental hematology · 2020Review
- Evolving Significance of Tumor-Normal Sequencing in Cancer Care.Trends in cancer · 2020Review
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Next-generation sequencing (NGS) hereditary pan-cancer panel testing can identify somatic variants, which exhibit lower allele frequencies than do germline variants and may confound hereditary cancer predisposition testing. This analysis examined the prevalence and characteristics of likely-somatic variants among 348,543 individuals tested using a clinical NGS hereditary pan-cancer panel. Variants showing allele frequencies between 10% and 30% were interpreted as likely somatic and identified in 753 (0.22%) individuals. They were most frequent in TP53, CHEK2 and ATM, commonly as C-to-T transitions. Among individuals who carried a likely-somatic variant and reported no personal cancer history, 54.2% (78/144) carried a variant in TP53, CHEK2 or ATM. With a reported cancer history, this percentage increased to 81.1% (494/609), predominantly in CHEK2 and TP53. Their presence was associated with age (OR=3.1, 95% CI 2.5, 3.7; p<0.001) and personal history of cancer (OR=3.3, 95% CI 2.7, 4.0; p<0.001), particularly ovarian cancer. Germline ATM pathogenic variant carriers showed significant enrichment of likely-somatic variants (OR=2.8, 95% CI 1.6, 4.9; p = 0.005), regardless of cancer status. The appearance of likely-somatic variants is consistent with clonal hematopoiesis, possibly influenced by cancer treatment. These findings highlight the precision required of diagnostic laboratories to deliver accurate germline testing results.
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