Molecular Spectrum of Somatic EGFR and KRAS Gene Mutations in non Small Cell Lung Carcinoma: Determination of Frequency, Distribution Pattern and Identification of Novel Variations in Indian Patients

作者: Bibhu Ranjan Das , Sangeet Bhaumik , Firoz Ahmad , Aziz Mandsaurwala , Heena Satam

DOI: 10.1007/S12253-014-9874-7

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摘要: Somatic mutations of EGFR and KRAS gene represent the most common alterations currently known in NSCLC patients. This study explored frequency, distribution pattern Indian The frequencies were 29 % (116/400) 4.5 % (6/132) respectively. Both prevalent females, a trend towards higher mutation frequency was seen patients under ≥ 60 years age. presence adenocarcinomas comparison to other histological subtype. Sequencing analysis exon 18 revealed Inframe deletion (G709_T710 > A) missense (K713R). Among 19 positive cases, 49.3 % (37/75) in-frame deletions, which E746_A750del frequent. Similarly, ~47 % (35/75) cases showed complex involving indel. 20 (N = 9), 8 substitutions, one duplication, while all 21 types with L858R as recurrent type. 1 three different codon 12 substitutions resulting c34G > T (G12C) (n = 4), c.35G > A (G12D) (n = 1), c.35G > T (G12V) (n = 1). In conclusion, present is an example molecular diversity further confirms that varies considerably globally. To best our knowledge, this first evaluate mutation. current also served identify novel variations added new insights into genetic heterogeneity NSCLC.

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