Mutation specific functions of EGFR result in a mutation-specific downstream pathway activation

Immunohistochemical detection of EGFR mutation using mutation-specific antibodies in lung cancer.

PURPOSE Patients with mutations of epidermal growth factor receptor (EGFR) receive more benefit from EGFR-tyrosine kinase inhibitor treatment. However, usually such treatment is used to treat advanced lung cancer and only small biopsy samples are available for mutational analysis. We used immunohistochemistry to examine recently developed antibodies specific to major hotspot mutations of L858R ...

Retinal Rod Photoreceptor–Specific Gene Mutation Perturbs Cone Pathway Development

Rod-specific photoreceptor dystrophies are complicated by the delayed death of genetically normal neighboring cones. In transgenic (Tg) swine with a rod-specific (rhodopsin) gene mutation, cone photoreceptor physiology was normal for months but later declined, consistent with delayed cone cell death. Surprisingly, cone postreceptoral function was markedly abnormal when cone photoreceptor physio...

Including Total EGFR Staining in Scoring Improves EGFR Mutations Detection by Mutation-Specific Antibodies and EGFR TKIs Response Prediction

Epidermal growth factor receptor (EGFR) is a novel target for therapy in subsets of non-small cell lung cancer, especially adenocarcinoma. Tumors with EGFR mutations showed good response to EGFR tyrosine kinase inhibitors (TKIs). We aimed to identify the discriminating capacity of immunohistochemical (IHC) scoring to detect L858R and E746-A750 deletion mutation in lung adenocarcinoma patients a...

A specific mutation for Huntington's disease.

Mutation-Specific Survival of Inherited Breast Cancer

P. Møller, Å. Borg, G. Evans, N. Haites, C.M. Steel, H. Vasen, H. Gregory, S. Hodgson, J. Apold, F. Lalloo, L. Mæhle, E. Anderson, K. Heimdal and the Biomed 2 Demonstration Programme on Inherited Breast Cancer Unit of Medical Genetics, The Norwegian Radium Hospital, N-0310 Oslo, Norway University of Lund, Sweden St. Mary’s Hospital, Manchester, UK Aberdeen University Medical School, Aberdeen, U...