ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Implementation of precision medicine in treating non-communicable diseases: a systematic review.Journal of translational medicine · 2025Pooled it
- A regulation probability model-based meta-analysis of multiple transcriptomics data sets for cancer biomarker identification.BMC bioinformatics · 2017Pooled it
- Identification of germline population variants misclassified as cancer-associated somatic variants.Frontiers in medicine · 2024Article
- Actionability classification of variants of unknown significance correlates with functional effect.NPJ precision oncology · 2023Article
- Development and evaluation of INTFrontiers in oncology · 2023Article
- Biomarker testing in cancer management- can one size fit all?British journal of cancer · 2022Article
- Bioinformatics: From NGS Data to Biological Complexity in Variant Detection and Oncological Clinical Practice.Biomedicines · 2022Review
- TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.Briefings in bioinformatics · 2022Article
- An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.Frontiers in oncology · 2022Article
- The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.JMIR research protocols · 2021Article
- Unexpected Pathogenic RET p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma.The American journal of case reports · 2020Article
- Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.The American journal of case reports · 2020Article
- Discovery through clinical sequencing in oncology.Nature cancer · 2020Review
- Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing.International journal of molecular sciences · 2020Article
- Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?Cancers · 2020Article
- Racial Differences in the Association Between Luminal Master Regulator Gene Expression Levels and Breast Cancer Survival.Clinical cancer research : an official journal of the American Association for Cancer Research · 2020Article
- Therapeutic implications of germline genetic findings in cancer.Nature reviews. Clinical oncology · 2019Review
- Adaptively capturing the heterogeneity of expression for cancer biomarker identification.BMC bioinformatics · 2018Article
- Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.Cancer discovery · 2018Article
- Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?Life sciences, society and policy · 2018Article
Corrections and comments
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Authors and funding
42 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeImplementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care.
methodsOne hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from formalin-fixed paraffin-embedded tumor biopsy samples and matched blood samples. Somatic and germ-line alterations were ranked according to therapeutic or clinical relevance. Results were interpreted using an integrated somatic and germ-line framework and returned in accordance with patient preferences.
resultsAt the time of this analysis, WES had been performed and results returned to the clinical team for 165 participants. Of 768 curated somatic alterations, only 31% were associated with clinical evidence and 69% with preclinical or inferential evidence. Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance. The variant review and decision-making processes were effective when the process was changed from that of a Molecular Tumor Board to a protocol-based approach.
conclusionThe development of novel interpretive and decision-support tools that draw from scientific and clinical evidence will be crucial for the success of cancer precision medicine in WES studies.Genet Med advance online publication 26 January 2017.
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