Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breat cancer cell lines

Download
  1. Get@NRC: Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breat cancer cell lines (Opens in a new window)
DOIResolve DOI: http://doi.org/10.1007/s10549-008-9942-3
AuthorSearch for: ; Search for: ; Search for: ; Search for: ; Search for: ; Search for: ; Search for: ; Search for:
TypeArticle
Journal titleBreast Cancer Research and Treatment
Volume113
Issue2
Pages285291; # of pages: 7
SubjectCancer susceptibility; Cell lines; Gene mutation; CHK2; p53
AbstractThe CHEK2 protein plays a major role in the regulation of DNA damage response pathways. Mutations in the CHEK2 gene, in particular 1100delC, have been associated with increased cancer risks, but the precise function of CHEK2 mutations in carcinogenesis is not known. Human cancer cell lines with CHEK2 mutations are therefore of main interest. Here, we have sequenced 38 breast cancer cell lines for mutations in the CHEK2 gene and identified two cell lines with deleterious CHEK2 mutations. Cell line UACC812 has a nonsense truncating mutation in the CHEK2 kinase domain (L303X) and cell line SUM102PT has the well-known oncogenic CHEK2 1100delC founder mutation. Immunohistochemical analysis revealed that the two CHEK2 mutant cell lines expressed neither CHEK2 nor P-Thr⁶⁸ CHEK2 proteins, implying abrogation of normal CHEK2 DNA repair functions. Cell lines UACC812 and SUM102PT thus are the first human CHEK2 null cell lines reported and should therefore be a major help in further unraveling the function of CHEK2 mutations in carcinogenesis.
Publication date
LanguageEnglish
AffiliationNational Research Council Canada (NRC-CNRC)
Peer reviewedYes
NPARC number15329277
Export citationExport as RIS
Report a correctionReport a correction
Record identifieraf4e9d7f-9f1c-4742-8a28-7f2a825082c0
Record created2010-05-21
Record modified2016-05-09
Bookmark and share
  • Share this page with Facebook (Opens in a new window)
  • Share this page with Twitter (Opens in a new window)
  • Share this page with Google+ (Opens in a new window)
  • Share this page with Delicious (Opens in a new window)