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Article

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.

International journal of cancer - 1 Apr 2025

Försti Asta, Ambrozkiewicz Filip, Marciniak Magdalena, Lubinski Jan, Hemminki Kari

Abstract excerpt

A double primary colorectal cancer (CRC) in a familial setting signals a high risk of CRC. In order to identify novel CRC susceptibility genes, we whole-exome sequenced germline DNA from nine persons with a double primary CRC and a family history of CRC. The detected variants were processed by bioinformatics filtering and prioritization, including STRING protein-protein interaction and pathway analysis. A total...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39654522
DOI: 10.1002/ijc.35283
PMCID: PMC11789446

Genes

CDK18
CHEK2
ENDOV
EXO1
FAAP24
FANCI
MCPH1
POLL
PRC1
RECQL
RECQL5
SHCBP1
SMC2
XRCC1
ZW10

Provenance

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