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Article

Optical genome mapping identifies structural variants in potentially new cancer predisposition candidate genes in pediatric cancer patients.

International journal of cancer - 15 Feb 2024

Wagener Rabea, Brandes Danielle, Jung Marie, Huetzen Maxim A, Bergmann Anke K, Panier Stephanie, Picard Daniel, Fischer Ute, Jachimowicz Ron D, Borkhardt Arndt, Brozou Triantafyllia

Abstract excerpt

Genetic predisposition is one of the major risk factors for pediatric cancer, with ~10% of children being carriers of a predisposing germline alteration. It is likely that this is the tip of the iceberg and many children are underdiagnosed, as most of the analysis focuses on single or short nucleotide variants, not considering the full spectrum of DNA alterations. Hence, we applied optical genome mapping (OGM) to...

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Identifiers

PMID: 37776287
DOI: 10.1002/ijc.34721

Genes

BRCA2
RPA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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