Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

doi:10.1371/journal.pgen.1006248

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Article

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

PLoS genetics - 1 Aug 2016

Rump Andreas, Benet-Pages Anna, Schubert Steffen, Kuhlmann Jan Dominik, Janavičius Ramūnas, Macháčková Eva, Foretová Lenka, Kleibl Zdenek, Lhota Filip, Zemankova Petra, Betcheva-Krajcir Elitza, Mackenroth Luisa, Hackmann Karl, Lehmann Janin, Nissen Anke, DiDonato Nataliya, Opitz Romy, Thiele Holger, Kast Karin, Wimberger Pauline, Holinski-Feder Elke, Emmert Steffen, Schröck Evelin, Klink Barbara

Abstract excerpt

The increasing application of gene panels for familial cancer susceptibility disorders will probably lead to an increased proposal of susceptibility gene candidates. Using ERCC2 DNA repair gene as an example, we show that proof of a possible role in cancer susceptibility requires a detailed dissection and characterization of the underlying mutations for genes with diverse cellular functions (in this case mainly...

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PMID: 27504877
DOI: 10.1371/journal.pgen.1006248
PMCID: PMC4978395

Genes

ERCC2
RECQL

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