Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

doi:10.1001/jama.2017.11137

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Back to search

Article

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

JAMA - 5 Sept 2017

Mandelker Diana, Zhang Liying, Kemel Yelena, Stadler Zsofia K, Joseph Vijai, Zehir Ahmet, Pradhan Nisha, Arnold Angela, Walsh Michael F, Li Yirong, Balakrishnan Anoop R, Syed Aijazuddin, Prasad Meera, Nafa Khedoudja, Carlo Maria I, Cadoo Karen A, Sheehan Meg, Fleischut Megan H, Salo-Mullen Erin, Trottier Magan, Lipkin Steven M, Lincoln Anne, Mukherjee Semanti, Ravichandran Vignesh, Cambria Roy, Galle Jesse, Abida Wassim, Arcila Marcia E, Benayed Ryma, Shah Ronak, Yu Kenneth, Bajorin Dean F, Coleman Jonathan A, Leach Steven D, Lowery Maeve A, Garcia-Aguilar Julio, Kantoff Philip W, Sawyers Charles L, Dickler Maura N, Saltz Leonard, Motzer Robert J, O'Reilly Eileen M, Scher Howard I, Baselga Jose, Klimstra David S, Solit David B, Hyman David M, Berger Michael F, Ladanyi Marc, Robson Mark E, Offit Kenneth

Abstract excerpt

Importance: Guidelines for cancer genetic testing based on family history may miss clinically actionable genetic changes with established implications for cancer screening or prevention. Objective: To determine the proportion and potential clinical implications of inherited variants detected using simultaneous sequencing of the tumor and normal tissue ("tumor-normal sequencing") compared with genetic test results...

Topics

Aged
Biomarkers, Tumor
DNA Mutational Analysis
DNA, Neoplasm
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Genetic Testing

Germ-Line Mutation

Humans

Male

Middle Aged

Neoplasms

Phenotype

Prospective Studies

Source

Open in PubMed Open full text

Identifiers

PMID: 28873162
DOI: 10.1001/jama.2017.11137
PMCID: PMC5611881

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.PMID 28873162Read ↗

Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.Semantic proximity Read ↗

American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.Semantic proximity Read ↗

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort StudySemantic proximity Read ↗

Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories.Semantic proximity Read ↗

Germline Pathogenic Variants Identified in Patients With Genitourinary Malignancies Undergoing Universal Testing: A Multisite Single-Institution Prospective Study.Semantic proximity Read ↗

Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.Semantic proximity Read ↗

Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.Semantic proximity Read ↗

Germline testing data validate inferences of mutational status for variants detected from tumor-only sequencingSemantic proximity Read ↗

Cancer Genetic Predisposition and Clinical Applications-A Narrative Review on Germline Genetic Testing, High-Risk Cancer Surveillance and Management.Semantic proximity Read ↗

The Future of Parallel Tumor and Germline Genetic Testing: Is There a Role for All Patients With Cancer?Semantic proximity Read ↗

Use of Treatment-Focused Tumor Sequencing to Screen for Germline Cancer Predisposition.Semantic proximity Read ↗

Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.