Somatic mutation analysis of KRAS, BRAF, HER2 and PTEN in EGFR mutation-negative non-small cell lung carcinoma: determination of frequency, distribution pattern and identification of novel deletion in HER2 gene from Indian patients

作者: Sangeet Bhaumik , Firoz Ahmad , Bibhu Ranjan Das

DOI: 10.1007/S12032-016-0828-7

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摘要: Somatic mutations of KRAS, BRAF, HER2, PTEN genes are the most important molecular markers after EGFR gene mutation. The current study evaluated frequency and distribution pattern mutation in Indian non-small cell lung carcinoma patients. was 6.4 % (14/204), 1.5 % (3/204), 0 % (0/204), respectively. HER2 were more prevalent males than females. KRAS showed a trend higher age group T (G12C) (n = 8), c.35G>A (G12D) (n = 3), c.35G>T (G12 V) (n = 1) c.34G>T (G12C)/c.41T>C (V14A) (n = 2) mutations. Three different BRAF (L584P: n = 1, V600E: K601E: n = 1) detected. Two cases harboured c.2324_2325ins12 (ATACGTGATGGC duplication) gene, one case positive for NG_007503.2 (NM_001005862.2):c.2218-4del. It is less certain, but still quite possible that this will affect splicing as deletion C actually brings additional purine into region. In conclusion, present demonstrates an instance diverse nature patients confirms these varies globally. To best our knowledge, first to evaluate

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