Article

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond <em>BRCA1/2</em>

2023-10-19

Abstract excerpt

<h4>Background: </h4> Several hereditary-familial syndromes associated with various types of tumors have been identified to date, evidencing that hereditary cancers caused by germline mutations account for 5-10% of all tumors. Advances in genetic technology and the implementation of Next Generation Sequencing (NGS) have accelerated the discovery of several susceptibility cancer genes, allowing the detection of can...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5c3181f8-68d0-5d72-a765-eb3551ebd3a7
DOI: 10.20944/preprints202310.1215.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond <em>BRCA1/2</em>DOI 10.20944/preprints202310.1215.v1Read

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysisSemantic proximity Read

The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy SubjectsSemantic proximity Read

The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.Semantic proximity Read

Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.Semantic proximity Read

Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer.Semantic proximity Read

Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.Semantic proximity Read

Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.Semantic proximity Read

Germline pathogenic variants identification through Comprehensive Cancer Genome ProfilingSemantic proximity Read

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.Semantic proximity Read

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

Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.Semantic proximity Read

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