ArticleHuman mutation2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed.
- Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.American journal of human genetics · 2026Article
- Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Prevalence and Clinical Significance of Adult-Onset Cancer Predisposition Variants in Pediatric Oncology.medRxiv : the preprint server for health sciences · 2026Article
- Review
- Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants.British journal of haematology · 2026Article
- Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification.EBioMedicine · 2026Article
- Distinct mutational landscapes when comparing germline and somatic cancer variants in forty tumor suppressor genes.bioRxiv : the preprint server for biology · 2026Article
- Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK).Journal of medical genetics · 2026Article
- Frequent Detection ofHuman mutation · 2026Article
- Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.NPJ precision oncology · 2025Article
- A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.Genome medicine · 2025Review
- Detecting likely germline variants during tumor-based molecular profiling.The Journal of clinical investigation · 2025Review
- The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.Genetics in medicine open · 2025Article
- Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.PLoS genetics · 2025Article
- Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.Orphanet journal of rare diseases · 2024Article
- The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.Blood advances · 2023Article
- Germline pathogenicJournal of medical genetics · 2023Article
- The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.Nature cancer · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors.
Funding
Abstract
In its landmark paper about Standards and Guidelines for the Interpretation of Sequence Variants, the American College of Medical Genetics and Genomics (ACMG), and Association for Molecular Pathology (AMP) did not address how to use tumor data when assessing the pathogenicity of germline variants. The Clinical Genome Resource (ClinGen) established a multidisciplinary working group, the Germline/Somatic Variant Subcommittee (GSVS) with this focus. The GSVS implemented a survey to determine current practices of integrating somatic data when classifying germline variants in cancer predisposition genes. The GSVS then reviewed and analyzed available resources of relevant somatic data, and performed integrative germline variant curation exercises. The committee determined that somatic hotspots could be systematically integrated into moderate evidence of pathogenicity (PM1). Tumor RNA sequencing data showing altered splicing may be considered as strong evidence in support of germline pathogenicity (PVS1) and tumor phenotypic features such as mutational signatures be considered supporting evidence of pathogenicity (PP4). However, at present, somatic data such as focal loss of heterozygosity and mutations occurring on the alternative allele are not recommended to be systematically integrated, instead, incorporation of this type of data should take place under the advisement of multidisciplinary cancer center tumor-normal sequencing boards.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.