Q787Q EGFR Polymorphism as a Prognostic Factor for Lung Squamous Cell Carcinoma

Koh, Young Wha; Kim, Hee Jin; Kwon, Hyog Young; Han, Jae‐Ho; Lee, Chi-Kyou; Lee, Moonsu; Kim, Chang‐Jin; Baek, Moo Jun; Jeong, Dongjun

doi:10.1159/000444495

Cited by 10 publications

(9 citation statements)

References 35 publications

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“…These authors also suggest a tendency toward better outcome in wild-type patients. Recently Koh et al, studying another Asiatic population, suggested, in agreement with Sasaki et al, that it could be an independent prognostic marker for low stage lung cancer patients [53]. In our study, we found no association of this marker with the most important mutations, p.L858R, and exon 19 deletions.…”

Section: Discussionsupporting

confidence: 87%

Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population

Berois

Touya

Ubillos

et al. 2017

Journal of Cancer Epidemiology

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Background Incorporation of molecular analysis of the epidermal growth factor receptor (EGFR) gene into routine clinical practice represents a milestone for personalized therapy of the non-small-cell lung cancer (NSCLC). However, the genetic testing of EGFR mutations has not yet become a routine clinical practice in developing countries. In view of different prevalence of such mutations among different ethnicities and geographic regions, as well as the limited existing data from Latin America, our aim was to study the frequency of major types of activating mutations of the EGFR gene in NSCLC patients from Uruguay. Methods We examined EGFR mutations in exons 18 through 21 in 289 NSCLC Uruguayan patients by PCR-direct sequencing. Results EGFR mutations were detected in 53 of the 289 (18.3%) patients, more frequently in women (23.4%) than in men (14.5%). The distribution by exon was similar to that generally reported in the literature. Conclusions This first epidemiological study of EGFR mutations in Uruguay reveals a wide spectrum of mutations and an overall prevalence of 18.3%. The background ethnic structure of the Uruguayan population could play an important role in explaining our findings.

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Section: Discussionsupporting

confidence: 87%

Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population

Berois

Touya

Ubillos

et al. 2017

Journal of Cancer Epidemiology

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“…Another SNP (rs1050171; Q787Q) found to be associated with increased risk of AR but not with ESRD is located in exon 20 region of the EGFR gene. In the previous studies, the presence of this mutation was associated with worse prognosis in colorectal cancer and lung squamous cell carcinoma than that in the wild type [35,36]. As a synonymous variant, rs1050171 does not alter the amino acid sequence and structure of EGFR.…”

Section: Discussionmentioning

confidence: 80%

Association between epidermal growth factor (EGF) and EGF receptor gene polymorphisms and end-stage renal disease and acute renal allograft rejection in a Korean population

et al. 2020

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Purpose: Epidermal growth factor (EGF) has been found to be associated with the development and repair mechanisms of several renal diseases. In this study, we hypothesized that single nucleotide polymorphisms (SNPs) in EGF or its receptor genes might have an association with end-stage renal disease (ESRD) or acute renal allograft rejection (AR) in a Korean population. Methods: Three-hundred and forty seven recipients of the first renal transplants for ESRD, including 63 AR patients along with 289 healthy adults were included in the study. Five EGF gene SNPs (rs11568835, rs11568943, rs2237051, rs11569017, and rs3756261) and four EGFR gene SNPs (rs1140475, rs2293347, rs1050171, and rs6965469) were analyzed. The genotypes of these SNPs were analyzed using the AxiomTM genome-wide human assay. Statistical analysis was performed using SNPStats and Haploview version 4.2 software. Multiple logistic regression models (codominant, dominant, recessive, and Log-additive) were used to estimate the odds ratio (OR), 95% confidence interval (CI), and P value. Results: One SNP (rs11569017) in the EGF gene showed significant association with ESRD but not with AR. Another SNP (rs11568835) in the EGF gene showed significant association with susceptibility to AR but not with ESRD. One SNP (rs1050171) in the EGFR gene showed significant association with susceptibility to AR but not with ESRD. Conclusion: Our findings suggest that SNPs in the EGF and EGFR gene may be associated with the risk of ESRD and AR development in the Korean population.

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“…A study by Zhang et al (Zhang et al, 2006) also observed a higher incidence of p.Q787Q in lung cancer patients (64.8% in n 5 122) than in controls (51.7% in n 5 146), but did not analyze the impact on patient survival or therapeutic outcome. A recent study by Koh et al (2016) described considerably lower frequencies of p.Q787Q in NSCLC (overall 24% out of n 5 163) with 15.9% in ADC patients (n 5 80) and 24% in squamous cell carcinoma patients (n 5 83 (Koh et al, 2016)). A recent study by Koh et al (2016) described considerably lower frequencies of p.Q787Q in NSCLC (overall 24% out of n 5 163) with 15.9% in ADC patients (n 5 80) and 24% in squamous cell carcinoma patients (n 5 83 (Koh et al, 2016)).…”

Section: Discussionmentioning

confidence: 91%

“…The reported prevalence of the variant is in line with the data of our study (69.4% in 642 adenocarcinoma patients). A recent study by Koh et al (2016) described considerably lower frequencies of p.Q787Q in NSCLC (overall 24% out of n 5 163) with 15.9% in ADC patients (n 5 80) and 24% in squamous cell carcinoma patients (n 5 83 (Koh et al, 2016)). These frequencies are in good accordance with data on the prevalence of p.Q787Q in Korean individuals, which is reported to be considerably lower than in the European population (16.42% MAF in East Asians vs. 47.28% MAF in Europeans in ExAc).…”

Section: Discussionmentioning

confidence: 91%

“…Contrasting the data by Koh et al (2016), Bonin et al (Bonin et al, 2015) observed improved overall survival in CRC patients homozygous for p.Q787Q. This study retrospectively analyzed a colon cancer cohort comprising controls treated with chemotherapy (n 5 65) and a cohort treated with the anti-EGFR antibodies cetuximab or panitumumab (n 5 98).…”

Section: Discussionmentioning

confidence: 92%

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Synonymous EGFR variant p.Q787Q is neither prognostic nor predictive in patients with lung adenocarcinoma

Leichsenring

Volckmar

Magios

et al. 2016

Genes Chromosomes & Cancer

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Patients with non-small cell lung cancer (NSCLC) harboring activating mutations in the Epidermal Growth Factor Receptor (EGFR) benefit from targeted therapies. A synonymous polymorphism (rs1050171, p.Q787Q) was shown to be associated with improved overall survival (OS) in colorectal cancer patients. As data in NSCLC are limited, we retrospectively analyzed associations of p.Q787Q with clinicopathological parameters including clinical response and outcome in patients with lung adenocarcinoma (ADC) who received tyrosine kinase inhibitor (TKI) therapy. Of 642 ADC patients whose tumors were profiled by next generation sequencing, 102 (15.9%) carried EGFR mutations targetable by TKIs (30.4% male patients, median age 65.1 y, 19.6% smokers with 12.8 median pack years). Seventy-nine patients (77.5%) received TKI therapy either as a first- or second-line therapy. Of the 102 EGFR-mutant tumors, 72 (70.6%) exhibited the p.Q787Q polymorphism and another 12 (11.8%) cases with p.Q787Q harbored an additional TKI insensitive mutation (p.T790M). The polymorphism was neither associated with classic clinicopathological parameters nor with overall survival (21.1 months vs. 20.1 months; P-value = 0.91) or clinical response (P-value = 0.122). The patients with p.T790M had worse survival compared to EGFR activating mutation carriers with and without p.Q787Q when analyzed as a separate group (27.5 months, P-value = 0.02). In conclusion, p.Q787Q is neither a suitable prognostic nor predictive biomarker for ADC patients receiving anti-EGFR therapy in first- or second-line of therapy. © 2016 Wiley Periodicals, Inc.

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Q787Q EGFR Polymorphism as a Prognostic Factor for Lung Squamous Cell Carcinoma

Cited by 10 publications

References 35 publications

Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population

Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population

Association between epidermal growth factor (EGF) and EGF receptor gene polymorphisms and end-stage renal disease and acute renal allograft rejection in a Korean population

Synonymous EGFR variant p.Q787Q is neither prognostic nor predictive in patients with lung adenocarcinoma

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