ArticleThe oncologist2023
Concordance Between Genomic Alterations Detected by Tumor and Germline Sequencing: Results from a Tertiary Care Academic Center Molecular Tumor Board.
Article in The oncologist, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Germline and somatic testing for homologous repair deficiency in patients with prostate cancer (part 1 of 2).Prostate cancer and prostatic diseases · 2025Guideline
- Genomic Analysis Using Liquid Biopsy: Considerations for Pretest Counseling in UK Practice.JCO precision oncology · 2026Review
- Somatic BRCA alterations in breast cancer are associated with distinct biological and clinical patterns according to germline BRCA status.ESMO open · 2026Article
- Optimizing Precision Oncology: Structural Frameworks for Local MTB Integration and Outcome Assessment.Medical sciences (Basel, Switzerland) · 2026Review
- Homologous recombination repair and breast cancer gene testing in prostate cancer: expert perspectives and practical guidance on best practice from sample acquisition to biomarker-informed clinical decision-making.Frontiers in oncology · 2026Article
- Comprehensive genetic analysis in biliary tract cancer: a prospective single-center experience.ESMO gastrointestinal oncology · 2025Article
- Prevention of Ovarian Cancer: Where are We Now and Where are We Going?Current oncology reports · 2024Review
- BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?NPJ breast cancer · 2024Review
- Clinical genetics in breast cancer.Journal of surgical oncology · 2024Review
- Putting comprehensive genomic profiling of ctDNA to work: 10 proposed use cases.The journal of liquid biopsy · 2024Review
- Racial Differences in Germline Genetic Testing Completion Among Males With Pancreatic, Breast, or Metastatic Prostate Cancers.Journal of the National Comprehensive Cancer Network : JNCCN · 2024Article
- Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.NPJ precision oncology · 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
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe majority of tumor sequencing currently performed on cancer patients does not include a matched normal control, and in cases where germline testing is performed, it is usually run independently of tumor testing. The rates of concordance between variants identified via germline and tumor testing in this context are poorly understood. We compared tumor and germline sequencing results in patients with breast, ovarian, pancreatic, and prostate cancer who were found to harbor alterations in genes associated with homologous recombination deficiency (HRD) and increased hereditary cancer risk. We then evaluated the potential for a computational somatic-germline-zygosity (SGZ) modeling algorithm to predict germline status based on tumor-only comprehensive genomic profiling (CGP) results.
methodsA retrospective chart review was performed using an academic cancer center's databases of somatic and germline sequencing tests, and concordance between tumor and germline results was assessed. SGZ modeling from tumor-only CGP was compared to germline results to assess this method's accuracy in determining germline mutation status.
resultsA total of 115 patients with 146 total alterations were identified. Concordance rates between somatic and germline alterations ranged from 0% to 85.7% depending on the gene and variant classification. After correcting for differences in variant classification and filtering practices, SGZ modeling was found to have 97.2% sensitivity and 90.3% specificity for the prediction of somatic versus germline origin.
conclusionsMutations in HRD genes identified by tumor-only sequencing are frequently germline. Providers should be aware that technical differences related to assay design, variant filtering, and variant classification can contribute to discordance between tumor-only and germline sequencing test results. In addition, SGZ modeling had high predictive power to distinguish between mutations of somatic and germline origin without the need for a matched normal control, and could potentially be considered to inform clinical decision-making.
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.