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Journal of Cancer Research and Clinical Oncology

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01.12.2008 | Original Paper

A novel EGFR mutation D1012H and polymorphism at exon 25 in Japanese lung cancer

verfasst von: Hidefumi Sasaki, Katsuhiro Okuda, Minoru Takada, Masaaki Kawahara, Naoto Kitahara, Akihide Matsumura, Keiji Iuchi, Tomoya Kawaguchi, Akihiko Kubo, Katsuhiko Endo, Osamu Kawano, Haruhiro Yukiue, Motoki Yano, Yoshitaka Fujii

Erschienen in: Journal of Cancer Research and Clinical Oncology | Ausgabe 12/2008

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Abstract

Introduction

Mutations of the epidermal growth factor receptor (EGFR) gene at kinase domain have been reported in non-small-cell lung cancer (NSCLC). However, EGFR mutations status at C-terminal domain has not been reported in detail.

Materials and methods

We investigated the EGFR mutation and polymorphism statuses at C-terminal domain in 398 surgically treated NSCLC cases. Two hundred and sixty-eight adenocarcinoma cases were included. The presence or absence of EGFR mutation and polymorphism was analyzed by direct sequences.

Results

A novel EGFR somatic mutation at exon 25 (G3034, D1012H) was found from 1 of 398 lung cancer patients. During sequencing of EGFR C-terminal domain in NSCLC, 194 EGFR polymorphism (C2982T) cases were identified at exon 25. The polymorphism statuses were not correlated with gender, smoking status (never smoker vs. smoker), pathological subtypes and EGFR mutations. The EGFR polymorphism ratio was significantly higher in younger NSCLC (≤60, 56.8%) than in older NSCLC (>60, 45.6%, P = 0.0467). The EGFR polymorphism ratio was significantly higher in lymph node positive NSCLC (57.4%) than in lymph node negative NSCLC (44%, P = 0.0168). In 46 total gefitinib treated NSCLC patients, exon 25 polymorphism was not correlated with prognosis.

Conclusion

EGFR mutation at C-terminal in lung cancers seemed to be extremely rare, however, this D1012H mutation might be a role in EGFR function. EGFR polymorphism at exon 25 might be correlated with progression of NSCLC.

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Titel: A novel EGFR mutation D1012H and polymorphism at exon 25 in Japanese lung cancer
verfasst von: Hidefumi Sasaki
Katsuhiro Okuda
Minoru Takada
Masaaki Kawahara
Naoto Kitahara
Akihide Matsumura
Keiji Iuchi
Tomoya Kawaguchi
Akihiko Kubo
Katsuhiko Endo
Osamu Kawano
Haruhiro Yukiue
Motoki Yano
Yoshitaka Fujii
Publikationsdatum: 01.12.2008
Verlag: Springer-Verlag
Erschienen in: Journal of Cancer Research and Clinical Oncology / Ausgabe 12/2008
Print ISSN: 0171-5216
Elektronische ISSN: 1432-1335
DOI: https://doi.org/10.1007/s00432-008-0411-5

Springer Medizin

A novel EGFR mutation D1012H and polymorphism at exon 25 in Japanese lung cancer