Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with...
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
About this item
Full title
Author / Creator
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 and Klink, Barbara
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 mutation...
Alternative Titles
Full title
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1820285108
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1820285108
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1006248
