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Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Breast cancer research and treatment - 1 Oct 2016

Hackmann Karl, Kuhlee Franziska, Betcheva-Krajcir Elitza, Kahlert Anne-Karin, Mackenroth Luisa, Klink Barbara, Di Donato Nataliya, Tzschach Andreas, Kast Karin, Wimberger Pauline, Schrock Evelin, Rump Andreas

Abstract excerpt

PURPOSE: Detection of predisposing copy number variants (CNV) in 330 families affected with hereditary breast and ovarian cancer (HBOC). METHODS: In order to complement mutation detection with Illumina's TruSight Cancer panel, we designed a customized high-resolution 8 × 60k array for CGH (aCGH) that covers all 94 genes from the panel. RESULTS: Copy number variants with immediate clinical relevance were detected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27581129
DOI: 10.1007/s10549-016-3956-z

Genes

BRCA1
ATM
BRCA2
CHEK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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