Activating germline R776H mutation in the epidermal growth factor receptor associated with lung cancer with squamous differentiation

Journal of Clinical Oncology

Volumn 31, Issue 10, 2013, Pages

  Van Noesel, Jan ^a   Van Der Ven, Ward H ^a   Van Os, Theo A M ^a   Kunst, Peter W A ^a   Weegenaar, Jitske ^a   Reinten, Roy J A ^a   Kancha, Rama K ^b   Duyster, Justus ^b   Van Noesel, Carel J M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DNA; EPIDERMAL GROWTH FACTOR RECEPTOR; ERLOTINIB; GEFITINIB; GLYCINE; PROTEIN P63; RNA;

ADULT; ALLELE; ARTICLE; BRAIN METASTASIS; BRONCHOSCOPY; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CASE REPORT; CELL DIFFERENTIATION; CELL SURFACE; CHROMOSOME 7; CODON; CYTOLOGY; DISEASE ASSOCIATION; EXON; FEMALE; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LUNG BIOPSY; LUNG LOBECTOMY; LUNG NON SMALL CELL CANCER; LUNG PARENCHYMA; LUNG SQUAMOUS CELL CARCINOMA; LYMPH NODE DISSECTION; LYMPH NODE METASTASIS; LYMPHOID CELL; MISSENSE MUTATION; PLEURISY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SQUAMOUS CELL; SQUAMOUS DIFFERENTIATION; TUMOR CELL;

ADULT; BASE SEQUENCE; CARCINOMA, NON-SMALL-CELL LUNG; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GERM-LINE MUTATION; HUMANS; IN SITU HYBRIDIZATION; LUNG; LUNG NEOPLASMS; MIDDLE AGED; MUTATION, MISSENSE; NEOPLASMS, SQUAMOUS CELL; PNEUMONECTOMY; PROTEIN KINASE INHIBITORS; QUINAZOLINES; RECEPTOR, EPIDERMAL GROWTH FACTOR; TREATMENT OUTCOME;

EID: 84876090563     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2012.42.1586     Document Type: Article

References (16)

1. Shigematsu H, Lin L, Takahashi T, et al: Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst 97:339-346, 2005 (Pubitemid 40425952)
2. Sharma SV, Bell DW, Settleman J, et al: Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer 7:169-181, 2007
3. Kancha RK, von Bubnoff N, Peschel C, et al: Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy. Clin Cancer Res 15:460-467, 2009
4. Kancha RK, Peschel C, Duyster J: The epidermal growth factor receptor-L861Q mutation increases kinase activity without leading to enhanced sensitivity toward epidermal growth factor receptor kinase inhibitors. J Thorac Oncol 6:387-392, 2011
5. Yun CH, Boggon TJ, Li Y, Woo MS, et al: Structures of lung cancer-derived EGFR mutants and inhibitor complexes: Mechanism of activation and insights into differential inhibitor sensitivity. Cancer Cell 11:217-227, 2007 (Pubitemid 46349842)
6. Wellcome Trust Sanger Institute: The Cancer Genome Project - Catalogue of Somatic Mutations in Cancer. http://www.sanger.ac.uk/genetics/CGP/cosmic
7. Jänne PA, Borras AM, Kuang Y, et al: A rapid and sensitive enzymatic method for epidermal growth factor receptor mutation screening. Clin Cancer Res 12:751-758, 2006 (Pubitemid 43259854)
8. Sequist LV, Joshi VA, Jänne PA, et al: Response to treatment and survival of patients with non-small cell lung cancer undergoing somatic EGFR mutation testing. Oncologist 12:90-98, 2007 (Pubitemid 46143506)
9. Lim EH, Zhang SL, Li JL, et al: Using whole genome amplification (WGA) of low-volume biopsies to assess the prognostic role of EGFR, KRAS, p53, and CMET mutations in advanced-stage non-small cell lung cancer (NSCLC). J Thorac Oncol 4:12-21, 2009
10. Yang CH, Yu CJ, Shih JY, et al: Specific EGFR mutations predict treatment outcome of stage IIIB/IV patients with chemotherapy-naive non-small-cell lung cancer receiving first-line gefitinib monotherapy. J Clin Oncol 26:2745-2753, 2008
11. Wu JY, Wu SG, Yang CH, et al: Lung cancer with epidermal growth factor receptor exon 20 mutations is associated with poor gefitinib treatment response. Clin Cancer Res 14:4877-4882, 2008
12. Kosaka T, Yatabe Y, Endoh H, et al: Analysis of epidermal growth factor receptor gene mutation in patients with non-small cell lung cancer and acquired resistance to gefitinib. Clin Cancer Res 12:5764-5769, 2006 (Pubitemid 44629607)
13. Bell DW, Gore I, Okimoto RA, et al: Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nat Genet 12:1315-1316, 2005
14. Prudkin L, Tang X, Wistuba II: Germ-line and somatic presentations of the EGFR T790M mutation in lung cancer. J Thorac Oncol 4:139-141, 2009
15. Ikeda K, Nomori H, Mori T, et al: Novel germline mutation: EGFR V843I in patient with multiple lung adenocarcinomas and family members with lung cancer. Ann Thorac Surg 85:1430-1432, 2008 (Pubitemid 351381643)
16. Centeno I, Blay P, Santamaría I, et al: Germ-line mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: A novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma. BMC Cancer 11:172, 2011