Ontology highlight
ABSTRACT:
SUBMITTER: Roeb W
PROVIDER: S-EPMC3363333 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
Roeb Wendy W Higgins Jake J King Mary-Claire MC
Human molecular genetics 20120313 12
Comprehensive sequencing of tumor suppressor genes to evaluate inherited predisposition to cancer yields many individually rare missense alleles of unknown functional and clinical consequence. To address this problem for CHEK2 missense alleles, we developed a yeast-based assay to assess in vivo CHEK2-mediated response to DNA damage. Of 25 germline CHEK2 missense alleles detected in familial breast cancer patients, 12 alleles had complete loss of DNA damage response, 8 had partial loss and 5 exhi ...[more]