ArticleClinical cancer research : an official journal of the American Association for Cancer Research2016
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 49 papers.
What it found
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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.
Development of a Tumor Molecular Analyses Program and Its Use to Support Treatment Decisions
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Who cites it
49 citing papers in PubMed, 98 citations in OpenAlex.
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- The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests.Journal of human genetics · 2025Article
- VOYAGER: an international consortium investigating the role of human papilloma virus and genetics in oral and oropharyngeal cancer risk and survival.medRxiv : the preprint server for health sciences · 2025Article
- Pathogenic germ line variants in a prospective multicenter cohort of patients with multiple myeloma.Blood neoplasia · 2025Article
- Clinical integration of germline findings from a tumor testing precision medicine program.BMC cancer · 2025Article
- Clinical Utility of Molecular Tumor Board Review for Identification of Possible Germline Pathogenic Variants on Tumor Next-Generation Sequencing Reports.JCO precision oncology · 2024Article
- Evolution of Precision Oncology, Personalized Medicine, and Molecular Tumor Boards.Surgical oncology clinics of North America · 2024Review
- Limited Independent Follow-Up with Germline Testing of Variants Detected inJournal of immunotherapy and precision oncology · 2024Article
- Pathogenic Germline Variants in BRCA1/2 and p53 Identified by Real-world Comprehensive Cancer Genome Profiling Tests in Asian Patients.Cancer research communications · 2023Article
- Clinically significant germline pathogenic variants are missed by tumor genomic sequencing.NPJ genomic medicine · 2023Article
- Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.NPJ precision oncology · 2023Article
- Sequencing of genes of drug response in tumor DNA and implications for precision medicine in cancer patients.The pharmacogenomics journal · 2023Article
- Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.Genome medicine · 2022Article
- Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.JAMA network open · 2022Article
- Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.Molecular biology reports · 2022Article
- Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.Frontiers in oncology · 2022Article
- The Role of Inherited Pathogenic CDKN2A Variants in Susceptibility to Pancreatic Cancer.Pancreas · 2021Review
- The Future of Parallel Tumor and Germline Genetic Testing: Is There a Role for All Patients With Cancer?Journal of the National Comprehensive Cancer Network : JNCCN · 2021Review
Corrections and comments
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo evaluate germline variants in hereditary cancer susceptibility genes among unselected cancer patients undergoing tumor-germline sequencing. EXPERIMENTAL
designGermline sequence data from 439 individuals undergoing tumor-germline dyad sequencing through the LCCC1108/UNCseq™ (NCT01457196) study were analyzed for genetic variants in 36 hereditary cancer susceptibility genes. These variants were analyzed as an exploratory research study to determine whether pathogenic variants exist within the germline of patients undergoing tumor-germline sequencing. Patients were unselected with respect to indicators of hereditary cancer predisposition.
resultsVariants indicative of hereditary cancer predisposition were identified in 19 (4.3%) patients. For about half (10/19), these findings represent new diagnostic information with potentially important implications for the patient and their family. The others were previously identified through clinical genetic evaluation secondary to suspicion of a hereditary cancer predisposition. Genes with pathogenic variants included ATM, BRCA1, BRCA2, CDKN2A, and CHEK2 In contrast, a substantial proportion of patients (178, 40.5%) had Variants of Uncertain Significance (VUS), 24 of which had VUS in genes pertinent to the presenting cancer. Another 143 had VUS in other hereditary cancer genes, and 11 had VUS in both pertinent and nonpertinent genes.
conclusionsGermline analysis in tumor-germline sequencing dyads will occasionally reveal significant germline findings that were clinically occult, which could be beneficial for patients and their families. However, given the low yield for unexpected germline variation and the large proportion of patients with VUS results, analysis and return of germline results should adhere to guidelines for secondary findings rather than diagnostic hereditary cancer testing. Clin Cancer Res; 22(16); 4087-94. ©2016 AACRSee related commentary by Mandelker, p. 3987.
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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.