Integrating somatic and germline next-generation sequencing into routine clinical oncology practice

JK Hicks, R Howard, P Reisman, JJ Adashek… - JCO precision …, 2021 - ascopubs.org
Next-generation sequencing (NGS) is rapidly expanding into routine oncology practice.
Genetic variations in both the cancer and inherited genomes are informative for hereditary …

Factors for a Broad Technology Assessment of Comprehensive genomic profiling in Advanced Cancer, a systematic review

LF van Schaik, EG Engelhardt, EA Wilthagen… - Critical reviews in …, 2024 - Elsevier
Abstract Comprehensive Genomic Profiling (CGP) allows for the identification of many
targets. Reimbursement decision-making is, however, challenging because besides the …

Aligning germline cancer predisposition with tumor-based next-generation sequencing for modern oncology diagnosis, interception, and therapeutic development

TA Yap, ZK Stadler, LA Stout… - American Society of …, 2023 - ascopubs.org
In the era of precision medicine, genomic interrogation for identification of both germline and
somatic genetic alterations has become increasingly important. While such germline testing …

Clinically significant germline pathogenic variants are missed by tumor genomic sequencing

LA Stout, C Hunter, C Schroeder, N Kassem… - NPJ Genomic …, 2023 - nature.com
A germline pathogenic variant may be present even if the results of tumor genomic
sequencing do not suggest one. There are key differences in the assay design and reporting …

Identification of germline cancer predisposition variants during clinical ctDNA testing

LA Stout, N Kassem, C Hunter, S Philips, M Radovich… - Scientific reports, 2021 - nature.com
Next-generation sequencing of circulating tumor DNA (ctDNA) is a non-invasive method to
guide therapy selection for cancer patients. ctDNA variant allele frequency (VAF) is …

Clinical Utility of Molecular Tumor Board Review for Identification of Possible Germline Pathogenic Variants on Tumor Next-Generation Sequencing Reports

TA Rives, J Collard, N Li, D Yan, CS Dietrich… - JCO precision …, 2024 - ascopubs.org
PURPOSE Tumor next-generation sequencing (NGS) testing identifies possible germline
pathogenic variants (PGPVs), creating a dilemma for appropriate recognition, triage, and …

Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?

J Peña-López, D Jiménez-Bou, I Ruíz-Gutiérrez… - Cancers, 2024 - mdpi.com
Simple Summary Colorectal cancer is often associated with MUTYH mutations, but their
connection to breast cancer remains unclear. We aimed to assess if MUTYH mutations …

Implementation of a population-based cancer family history screening program for lynch syndrome

S Lahiri, S Pirzadeh-Miller, K Moriarty… - Cancer …, 2023 - journals.sagepub.com
Objectives Lynch syndrome increases risks for colorectal and other cancers. Though
published Lynch syndrome cancer risk-management guidelines are effective for risk …

[HTML][HTML] Assessing actionability and incidental findings of germline variants in two precision oncology trials

MB Ibrahim, Y Adnani, GJ Clément, L Lacroix… - European Journal of …, 2024 - Elsevier
Introduction High-throughput sequencing techniques have revolutionized oncology. Paired
germline-tumor DNA analysis has emerged as a comprehensive strategy to uncover …

Germline whole genome sequencing in adults with multiple primary tumors

Y Wang, Q Ding, S Prokopec, KM Farncombe, J Bruce… - Familial Cancer, 2023 - Springer
Multiple primary tumors (MPTs) are a harbinger of hereditary cancer syndromes. Affected
individuals often fit genetic testing criteria for a number of hereditary cancer genes and …