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Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

BioMed research international - 1 Jan 2020

Rosenthal Sun Hee, Sun Weimin, Zhang Ke, Liu Yan, Nguyen Quoclinh, Gerasimova Anna, Nery Camille, Cheng Linda, Castonguay Carolyn, Hiller Elaine, Li James, Elzinga Christopher, Wolfson David, Smolgovsky Alla, Chen Rebecca, Buller-Burckle Arlene, Catanese Joseph, Grupe Andrew, Lacbawan Felicitas, Owen Renius

Abstract excerpt

The use of genetic testing to identify individuals with hereditary cancer syndromes has been widely adopted by clinicians for management of inherited cancer risk. The objective of this study was to develop and validate a 34-gene inherited cancer predisposition panel using targeted capture-based next-generation sequencing (NGS). The panel incorporates genes underlying well-characterized cancer syndromes, such as...

Topics

DNA Copy Number Variations
Genes, Neoplasm
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
INDEL Mutation
Inheritance Patterns
Reproducibility of Results

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Identifiers

PMID: 32090079
DOI: 10.1155/2020/3289023
PMCID: PMC6998746

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