P556: Prevalence of pathogenic and likely pathogenic copy number variants in hereditary cancer risk genes*

Emily Mazzei; Calan Szmyd; Jingwen Zhang; Sara L. Bristow; Nicole Hook; Youbao Sha; Amber Shamburger; Minetta Liu; Adam ElNaggar

doi:10.1016/j.gimo.2026.104047

P556: Prevalence of pathogenic and likely pathogenic copy number variants in hereditary cancer risk genes*

Genetics in Medicine Open 2026 Open access

Read full text

Authors: Emily Mazzei, Calan Szmyd, Jingwen Zhang, Sara L. Bristow, Nicole Hook, Youbao Sha, Amber Shamburger, Minetta Liu, Adam ElNaggar

DOI: 10.1016/j.gimo.2026.104047

Cited by: 0

Abstract

Hereditary cancer syndromes account for approximately 5-10% of all cancers, underscoring the importance of germline genetic testing. Among pathogenic/likely pathogenic (P/LP) variants in cancer-risk genes, limited studies have estimated that copy number variants (CNVs) represent up to 10% of the variants identified through multi-gene hereditary cancer testing. Here, we describe the CNVs identified in a cohort of individuals undergoing hereditary testing at a single diagnostic testing laboratory.

Fields of Study & Subjects

BRCA gene mutations in cancer Genomics and Rare Diseases Genetic factors in colorectal cancer

Publication details

Journal / source: Genetics in Medicine Open
Volume: 4
Pages: 104047–104047
Publication date: 1 January 2026
Language: EN