RE: prognostic factors and genes associated with endometrial cancer based on gene expression profiling and bioinformatic
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RE: prognostic factors and genes associated with endometrial cancer based on gene expression profiling and bioinformatics analysis Yeon‑Suk Kim1 · Hee‑Sook Lim2 · Tae‑Hee Kim3 · Kisung Song1 Received: 28 September 2018 / Accepted: 5 January 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019
Keywords Endometrial carcinoma · Next-generation sequencing · Target-gene sequencing Dear Editor, We have read the review article by Zhang et al. suggesting that more attention should be placed on the pathological type, body mass index (BMI), hypertension status, and Glut4-positive expression of patients with endometrial cancer (EC), and that CDK1, CCNA2, JUN, and FOS may play important roles in the EC development [1]. This article clearly demonstrates the relationships among the differential expression of CDK1, CCNA2, JUN, and FOS genes identified by the microarray analysis in EC. We also think that these genes affect the development of endometrial cancer. We performed a pilot study to identify genetic variations in EC patients with a BMI > 30, for a more personalised genomic analysis. We sequenced target genes in EC01, EC02, and EC03 samples (n = 3) from obese (BMI > 30) women (see Table 1). All analyses were performed after obtaining approval from the ethics committee of Tertiary University Hospital (IRB No. SCHBC 2015-10-020). Samples from two or more pregnant women were collected. Of these, only EC02 was undergoing menopause. Genetic information (hg19) was obtained from the lesion sites, as Yeon-Suk Kim and Hee-Sook Lim are equally contributed to this work. * Tae‑Hee Kim [email protected] 1
Department of Interdisciplinary Program in Biomedical Science, Soonchunhyang University Graduate School, Asan, Republic of Korea
2
Department of Food and Nutrition, Yeonsung University, Anyang, Republic of Korea
3
Department of Obstetrics and Gynecology, Bucheon Hospital, Soonchunhyang University College of Medicine, 170 Jomaru‑ro, Wonmi‑gu, Bucheon‑si, Gyeonggi‑do 14584, Republic of Korea
the experimental group, and blood samples, as the control group, of EC patients. Through target sequencing analysis, relevant genes were selected from two variants of endometrial cancer. The screening criteria included missense, splicesite, synonymous, stop-gain, and frameshift mutations, as well as mutations included in the Clinvar database (https ://www.ncbi.nlm.nih.gov/clinvar/) (https://www.ncbi.nlm. nih.gov/clinvar/docs/clinsig/, pathogenic, drug response). The mutated genes associated with our samples are shown in Table 2. The SNPs detected in each sample have been implicated in drug responses previously [2]. CYP2C19 is involved in drug metabolism in chemotherapy. CYP2C19 is involved in drug metabolism in chemotherapy [3]. TAS2R38 has not been studied extensively, but this gene has been proposed to play a role in cancer. We also performed an analysis of somatic variants to compare DNA mutations between blood and lesion tissues collected from individual patients to identify lesion-specific gen
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