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Germ-line exon 21 EGFR mutations, V843I and P848L, in nonsmall cell lung cancer patients

Nathalie Prim, Michele Legrain, Eric Guerin, Bertrand Mennecier, Noelle Weingertner, Anne-Claire Voegeli, Dominique Guenot, Christine M. Maugard, Anne-Elisabeth Quoix, Michele Beau-Faller
European Respiratory Review 2014 23: 390-392; DOI: 10.1183/09059180.00009313
Nathalie Prim
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Michele Legrain
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Eric Guerin
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Bertrand Mennecier
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Noelle Weingertner
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Anne-Claire Voegeli
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Dominique Guenot
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Christine M. Maugard
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Anne-Elisabeth Quoix
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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Michele Beau-Faller
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
1Chest Dept, Strasbourg University Hospital, Strasbourg, France. 2Research Unit EA 3430, Translational Medicine Federation, Strasbourg University, Strasbourg, France. 3Dept of Biochemistry and Molecular Biology, Strasbourg University Hospital, Strasbourg, France. 4Dept of Pathology, Strasbourg University Hospital, Strasbourg, France. 5UF6948, Oncogenetic Familial Evaluation and UF1422 Molecular Oncogenetic, Genetic Diagnostic Laboratory, Strasbourg University Hospital, Strasbourg, France.
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  • For correspondence: Michele.FALLER@chru-strasbourg.fr
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    Figure 1.

    a–c) Case 1, with epidermal growth factor receptor (EGFR) exon 21 mutations (V843I and L858R). a) Pedigree chart. The black case corresponds to the index patient. b) DNA sequencing electrophoretograms for DNA obtained from lung tumour tissue identifying EGFR exon 21 mutations; both mutations are present. c) DNA sequencing electrophoretograms for DNA obtained from blood, identifying one EGFR exon 21 mutation, the V834I variant, is present and confirming it is germ-line. d–f) Case 2, with EGFR exon 21 mutation (P848L). d) Pedigree chart. The black case corresponds to the index patient. The hatched box represents a case with head and neck carcinoma. e) DNA sequencing electrophoretograms for DNA obtained from lung tumour tissue identifying an EGFR exon 21 mutation (P848L). f) DNA sequencing electrophoretograms for DNA obtained from blood identifying the EGFR exon 21 P848L variant is present and confirming it is germ-line.

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Germ-line exon 21 EGFR mutations, V843I and P848L, in nonsmall cell lung cancer patients
Nathalie Prim, Michele Legrain, Eric Guerin, Bertrand Mennecier, Noelle Weingertner, Anne-Claire Voegeli, Dominique Guenot, Christine M. Maugard, Anne-Elisabeth Quoix, Michele Beau-Faller
European Respiratory Review Sep 2014, 23 (133) 390-392; DOI: 10.1183/09059180.00009313

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Germ-line exon 21 EGFR mutations, V843I and P848L, in nonsmall cell lung cancer patients
Nathalie Prim, Michele Legrain, Eric Guerin, Bertrand Mennecier, Noelle Weingertner, Anne-Claire Voegeli, Dominique Guenot, Christine M. Maugard, Anne-Elisabeth Quoix, Michele Beau-Faller
European Respiratory Review Sep 2014, 23 (133) 390-392; DOI: 10.1183/09059180.00009313
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