2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Validation and Real-Life Experience of a Comprehensive, Targeted Next-Generation Sequencing Panel for Hereditary Cancer Predisposition

Validation and Real-Life Experience of a Comprehensive, Targeted Next-Generation Sequencing Panel for Hereditary Cancer Predisposition

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Pdf Summary

A custom capture-based panel of 46 genes and 1 pseudogene was used to investigate the performance of Next Generation Sequencing (NGS) technology for detecting hereditary cancer risk variants. The panel is designed to identify individuals with cancer-predisposing gene variants associated with breast, ovarian, uterine, colorectal, prostate, and melanoma cancers. The assay uses targeted custom capture reagent for DNA enrichment and sequencing is performed using an Illumina MiniSeq sequencing system. The assay detects single-nucleotide variants (SNVs) and small insertion/deletion variants, as well as single-exon and multi-exon copy number variants (CNVs). The panel has an average sample level coverage of over 900X. The panel has been validated and has shown robust detection and classification of pathogenic variants. Retrospective lab experience over the past 20 months showed that out of 107 patients tested, 27 had positive results indicating the presence of pathogenic variants. The test can be upgraded or downgraded to reclassify variants as more information becomes available. The expanded version of the hereditary cancer panel now covers 88 hereditary cancer genes. Limitations of the test include possible false-negative or false-positive results due to incomplete scientific knowledge, technical issues, or the presence of genetic variation not covered by the panel. The test is intended for clinical purposes and has not been FDA approved.

Asset Subtitle

Presenting Author - Amelie Pinard, PhD; Co-Author - Anthony M. Chua, BS; Co-Author - Ugur Hodoglugil, MD,PhD; Co-Author - Pierre-Marie Martin, Ph.D; Co-Author - Julie Mak, LCGC, MS; Co-Author - Amie Blanco, CGC, MS; Co-Author - Marta Sabbadini, CGC, PhD, MS; Co-Author - Aleksandar Rajkovic, MD; Co-Author - W. Patrick Devine, MD, PhD; Co-Author - Jessica AG. Van Ziffle, PhD, FACMG;

Meta Tag

Cancer Syndromes

Genetic Testing

NextGen Sequencing

Variant Detection

Co-Author Anthony M. Chua, BS

Co-Author Ugur Hodoglugil, MD,PhD

Co-Author Pierre-Marie Martin, Ph.D

Co-Author Julie Mak, LCGC, MS

Co-Author Amie Blanco, CGC, MS

Co-Author Marta Sabbadini, CGC, PhD, MS

Co-Author Aleksandar Rajkovic, MD

Co-Author W. Patrick Devine, MD, PhD

Co-Author Jessica AG. Van Ziffle, PhD, FACMG

Presenting Author Amelie Pinard, PhD

Keywords

Next Generation Sequencing

hereditary cancer risk variants

cancer-predisposing gene variants

breast cancer

ovarian cancer

colorectal cancer

copy number variants

pathogenic variants

retrospective lab experience

genetic variation