Rapid Polymerase Chain Reaction-Based Detection of Epidermal Growth Factor Receptor Gene Mutations in Lung Adenocarcinomas

Pan, Qiulu; Pao, William; Ladanyi, Marc

doi:10.1016/s1525-1578(10)60569-7

Cited by 226 publications

(182 citation statements)

References 17 publications

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“…In some of the resected tissue samples or biopsy specimens, the ratio of cancer cell is less than 5%, and therefore, sensitive methods to detect such mutations are necessary. Pan et al (2005) reported sensitive assays based on a length analysis of fluorescently labeled PCR products for the detection of two predominant types of EGFR mutations, and thus showed four cases in which no mutations were apparent by sequencing. In this study, an L858R mutation was detectable in one cancer cell of 10 3 normal cells, which is more sensitive than the previously reported method (Pan et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

“…Pan et al (2005) reported sensitive assays based on a length analysis of fluorescently labeled PCR products for the detection of two predominant types of EGFR mutations, and thus showed four cases in which no mutations were apparent by sequencing. In this study, an L858R mutation was detectable in one cancer cell of 10 3 normal cells, which is more sensitive than the previously reported method (Pan et al, 2005). The L858R mutation in exon 21 occurs in about 20 -25% in adenocarcinoma of East Asian patients, therefore, this MASA method used in this study is useful for detecting cancer cells with a mutation in sputum, pleural effusion, or biopsy samples, when only a few cancer cells exist among a vast number of normal cells.…”

Section: Discussionmentioning

confidence: 99%

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Mutations within the tyrosine kinase domain of EGFR gene specifically occur in lung adenocarcinoma patients with a low exposure of tobacco smoking

et al. 2006

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Somatically acquired mutations in the epidermal growth factor receptor (EGFR) gene in lung cancer are associated with significant clinical responses to gefitinib, a tyrosine kinase inhibitor that targets EGFR. We screened the EGFR in 469 resected tumours of patients with lung cancer, which included 322 adenocarcinomas, 102 squamous cell carcinomas, 27 large cell carcinomas, 13 small cell carcinomas, and five other cell types. PCR with a specific condition was performed to identify any deletion in exon 19, while mutantallele-specific amplification was performed to identify a mutation in codon 858 of exon 21. EGFR mutations were found in 136 cases (42.2%) with adenocarcinoma, in one case with large cell carcinoma, and in one case with pleomorphic carcinoma. An in-frame deletion in exon 19 was found in 62 cases while an L858R mutation was found in 77 cases. In the 322 cases with adenocarcinoma, these mutations were more frequently found in women than in men (P ¼ 0.0004), in well differentiated tumours than in poorly differentiated tumours (P ¼ 0.0014), and in patients who were never smokers than in patients who were current/former smokers (Po0.0001). The mutation was more frequently observed in patients who smoked p20 pack-year, and in patients who quit at least 20 years before the date of diagnosis for lung cancer. The K-ras mutations were more frequently found in smokers than in never smokers, and in high-dose smokers than in low-dose smokers. In conclusion, the mutations within the tyrosine kinase domain of EGFR were found to specifically occur in lung adenocarcinoma patients with a low exposure of tobacco smoking.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Mutations within the tyrosine kinase domain of EGFR gene specifically occur in lung adenocarcinoma patients with a low exposure of tobacco smoking

et al. 2006

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“…In a serial study, the TaqMan PCR assay could detect a mutant sample diluted 1 to 10 with a wildtype sample. Pan et al 33 also used a PCR-based method but only examined mutations in exons 19 and 21. One major drawback, however, is that these methods are effective at identifying only mutations that are already known.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of denaturing high‐performance liquid chromatography as a rapid detection method for identification of epidermal growth factor receptor mutations in nonsmall‐cell lung cancer

Cohen

Agulnik

Jarry

et al. 2006

Cancer

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Objectives: The polymorphic site rs4647905 of the FGFR1 gene was previously associated with a decrease in cephalic index (CI). Here, we evaluate the relationships between genotypes and cephalometric measurements and indices in one Mexican Native and two mestizo Mexican populations using two haplotype‐tag SNPs (rs4647905 and rs3213849) that represent >85% of the FGFR1 variability, plus three other SNPs (rs2293971, rs2304000, and rs930828) situated nearby. In addition, we genotyped five South American natives, two European, one African, and one Siberian populations to evaluate their intra and intercontinental population diversity. Methods: The five SNPs were tested and the craniofacial measurements and indices were collected using standardized procedures. Principal Component Analysis was used to verify individual/population comparisons. Associations were performed through the generalized linear model (GLM), coefficient of determination R2 and linear regression tests. Results: We found a tendency for a decrease in CI in individuals homozygous for allele rs4647905C, regardless of the population to which they belong, though the effect is more pronounced in mestizo. When the GLM analyses were performed using the absolute/linear cephalometric measurements, a statistically significant association was found between four SNPs and head length in the mestizo population. Conclusions: FGFR1 polymorphisms, especially rs4647905, can have an important role in the normal human skull variation, primarily due to their influence in head length, which would affect other cephalometric absolute/linear measures as well as indices like CI as a result of the pervasive nature of the morphological integration that characterizes the human skull. Am. J. Hum. Biol. 2013. © 2012 Wiley Periodicals, Inc.

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“…These sensitive assays can detect mutations in the presence of up to 90% non-neoplastic cells and are described in detail elsewhere. 20 …”

Section: Egfr Mutation Analysismentioning

confidence: 99%

EGFR gene amplification in breast cancer: correlation with epidermal growth factor receptor mRNA and protein expression and HER-2 status and absence of EGFR-activating mutations

et al. 2005

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The human epidermal growth factor receptor (HER) family of receptor tyrosine kinase has been extensively studied in breast cancer; however, systematic studies of EGFR gene amplification and protein overexpression in breast carcinoma are lacking. We studied EGFR gene amplification by chromogenic in situ hybridization (CISH) and protein expression by immunohistochemistry in 175 breast carcinomas, using tissue microarrays. Tumors with 45 EGFR gene copies per nucleus were interpreted as positive for gene amplification. Protein overexpression was scored according to standardized criteria originally developed for HER-2. EGFR mRNA levels, as measured by Affymetrix U133 Gene Chip microarray hybridization, were available in 63 of these tumors. HER-2 gene amplification by fluorescence in situ hybridization (FISH) and protein overexpression by immunohistochemistry were also studied. EGFR gene amplification (copy number range: 7-18; median: 12) was detected in 11/175 (6%) tumors, and protein overexpression was found in 13/175 (7%) tumors. Of the 11 tumors, 10 (91%) with gene amplification also showed EGFR protein overexpression (2 þ or 3 þ by immunohistochemistry). The EGFR mRNA level, based on Affymetrix U133 chip hybridization data, was increased relative to other breast cancer samples in three of the five tumors showing gene amplification. Exons 19 and 21 of EGFR, the sites of hotspot mutations in lung adenocarcinomas, were screened in the 11 EGFR-amplified tumors but no mutations were found. Three of these 11 tumors also showed HER-2 overexpression and gene amplification. Approximately 6% of breast carcinomas show EGFR amplification with EGFR protein overexpression and may be candidates for trials of EGFR-targeted antibodies or small inhibitory molecules.

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Rapid Polymerase Chain Reaction-Based Detection of Epidermal Growth Factor Receptor Gene Mutations in Lung Adenocarcinomas

Cited by 226 publications

References 17 publications

Mutations within the tyrosine kinase domain of EGFR gene specifically occur in lung adenocarcinoma patients with a low exposure of tobacco smoking

Mutations within the tyrosine kinase domain of EGFR gene specifically occur in lung adenocarcinoma patients with a low exposure of tobacco smoking

Evaluation of denaturing high‐performance liquid chromatography as a rapid detection method for identification of epidermal growth factor receptor mutations in nonsmall‐cell lung cancer

EGFR gene amplification in breast cancer: correlation with epidermal growth factor receptor mRNA and protein expression and HER-2 status and absence of EGFR-activating mutations

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