Study of Genetic Variants in Chromosome 5p15.33 Region in Non-Smoker Lung Cancer Patients

Mandour, Iman; Hussein, Sabah Ahmed; Essam, Rania; El-Hossainy, Menna Ahmad

doi:10.5603/arm.a2020.0161

Cited by 5 publications

(5 citation statements)

References 26 publications

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“…To this date, several genetic lesions have been reported to have an influence on adenocarcinoma development in never-smoking patients. For example, Mandour et al (56) documented that SNPs within telomerase reverse transcriptase (TERT), cleft lip, and palate transmembrane 1-like (CLPT-M1L) genes can have an important role in the development of adenocarcinoma in never-smokers. In another study Staff et al (57) showed that gene expression profile differs between AD patients who never smoked and those who smoked suggesting a distinct entity of lung adenocarcinomas in those two groups.…”

Section: Discussionmentioning

confidence: 99%

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The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers

et al. 2023

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IntroductionLung cancer is the predominant cause of death among cancer patients and non-small cell lung cancer (NSCLC) is the most common type. Cigarette smoking is the prevailing risk factor for NSCLC, nevertheless, this cancer is also diagnosed in never-smokers. B and T lymphocyte attenuator (BTLA) belongs to immunological checkpoints which are key regulatory molecules of the immune response. A growing body of evidence highlights the important role of BTLA in cancer. In our previous studies, we showed a significant association between BTLA gene variants and susceptibility to chronic lymphoblastic leukemia and renal cell carcinoma in the Polish population. The present study aimed to analyze the impact of BTLA polymorphic variants on the susceptibility to NSCLC and NSCLC patients’ overall survival (OS).MethodsUsing TaqMan probes we genotyped seven BTLA single-nucleotide polymorphisms (SNPs): rs2705511, rs1982809, rs9288952, rs9288953, rs1844089, rs11921669 and rs2633582 with the use of ViiA 7 Real-Time PCR System.ResultsWe found that rs1982809 within BTLA is associated with NSCLC risk, where carriers of rs1982809G allele (AG+GG genotypes) were more frequent in patients compared to controls. In subgroup analyses, we also noticed that rs1982809G carriers are significantly overrepresented in never-smokers, but not in smokers compared to controls. Additionally, the global distribution of the haplotypes differed between the never-smokers and smokers, where haplotypes A G G C A, C G A C G, and C G A T G were more frequent in never-smoking patients. Furthermore, the presence rs1982809G (AG+GG genotypes) allele as well as the presence of rs9288953T allele (CT+TT genotypes) increased NSCLC risk in females’ patients. After stratification by histological type, we noticed that rs1982809G and rs2705511C carriers were more frequent among adenocarcinoma patients. Moreover, rs1982809G and rs2705511C correlated with the more advanced stages of NSCLC (stage II and III), but not with stage IV. Furthermore, we showed that rs2705511 and rs1982809 significantly modified OS, while rs9288952 tend to be associated with patients’ survival.ConclusionOur results indicate that BTLA polymorphic variants may be considered low penetrating risk factors for NSCLC especially in never-smokers, and in females, and are associated with OS of NSCLC patients.

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Section: Discussionmentioning

confidence: 99%

“…For example, Mandour et al. ( 56 ) documented that SNPs within telomerase reverse transcriptase (TERT), cleft lip, and palate transmembrane 1-like (CLPT-M1L) genes can have an important role in the development of adenocarcinoma in never-smokers. In another study Staff et al.…”

Section: Discussionmentioning

confidence: 99%

The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers

et al. 2023

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“…NSCLC is the most common type of LC, and LUAD is the most prevalent subtype of NSCLC 73 . Previous studies 90 have found rs2736100 to be a risk factor associating with increased susceptibility to LC, especially for LUAD.…”

Section: Discussionmentioning

confidence: 99%

Ethnicity-specific association between TERT rs2736100 (A > C) polymorphism and lung cancer risk: a comprehensive meta-analysis

Huang

et al. 2023

Sci Rep

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The rs2736100 (A > C) polymorphism of the second intron of Telomerase reverse transcriptase (TERT) has been confirmed to be closely associated with the risk of Lung cancer (LC), but there is still no unified conclusion on the results of its association with LC. This study included Genome-wide association studies (GWAS) and case–control studies reported so far on this association between TERT rs2736100 polymorphism and LC to clarify such a correlation with LC and the differences in it between different ethnicities and different types of LC. Relevant literatures published before May 7, 2022 on ‘TERT rs2736100 polymorphism and LC susceptibility’ in PubMed, EMbase, CENTRAL, MEDLINE databases were searched through the Internet, and data were extracted. Statistical analysis of data was performed in Revman5.3 software, including drawing forest diagrams, drawing funnel diagrams and so on. Sensitivity and publication bias analysis were performed in Stata 12.0 software. The C allele of TERT rs2736100 was associated with the risk of LC (Overall population: [OR] = 1.21, 95%CI [1.17, 1.25]; Caucasians: [OR] = 1.11, 95%CI [1.06, 1.17]; Asians: [OR] = 1.26, 95%CI [1.21, 1.30]), and Asians had a higher risk of LC than Caucasians (C vs. A: Caucasians: [OR] = 1.11 /Asians: [OR]) = 1.26). The other gene models also showed similar results. The results of stratified analysis of LC patients showed that the C allele was associated with the risk of Non-small-cell lung carcinoma (NSCLC) and Lung adenocarcinoma (LUAD), and the risk of NSCLC and LUAD in Asians was higher than that in Caucasians. The C allele was associated with the risk of Lung squamous cell carcinoma (LUSC) and Small cell lung carcinoma(SCLC) in Asians but not in Caucasians. NSCLC patients ([OR] = 1.27) had a stronger correlation than SCLC patients ([OR] = 1.03), and LUAD patients ([OR] = 1.32) had a stronger correlation than LUSC patients ([OR] = 1.09).In addition, the C allele of TERT rs2736100 was associated with the risk of LC, NSCLC and LUAD in both smoking groups and non-smoking groups, and the risk of LC in non-smokers of different ethnic groups was higher than that in smokers. In the Asians, non-smoking women were more at risk of developing LUAD. The C allele of TERT rs2736100 is a risk factor for LC, NSCLC, and LUAD in different ethnic groups, and the Asian population is at a more common risk. The C allele is a risk factor for LUSC and SCLC in Asians but not in Caucasians. And smoking is not the most critical factor that causes variation in TERT rs2736100 to increase the risk of most LC (NSCLC, LUAD). Therefore, LC is a multi-etiological disease caused by a combination of genetic, environmental and lifestyle factors.

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“…However, adjuvant chemotherapy following radical hysterectomy is not a standard treatment yet; if the probability of recurrence following adjuvant chemotherapy could be predicted, this may assist gynecological oncologists in deciding which adjuvant therapy (chemotherapy or radiation therapy) to use. CLPTM1L was first identified in cisplatin resistance ovarian tumor cells, and recent reports noted that genome-wide association studies revealed a correlation between CLPTM1L expression and lung cancer, pancreatic cancer, prostate cancer, bladder cancer, glioma, melanoma, basal cell carcinoma, and cervical cancer (13)(14)(15)(16)(17)(18)(19)(20)(21)(22). Understanding the function of CLPTM1L in healthy organs or tissues requires further study; however, CLPTM1L has been reported to play a crucial role in fetal development and neonatal survival but is not essential in adult animals (27).…”

Section: Discussionmentioning

confidence: 99%

“…Cleft lip and palate transmembrane protein 1-like protein [CLPTM1L, also known as cisplatin resistance-related protein 9 (CRR9)] has been identified as an overexpressed protein in human ovarian tumor cells resistant to cisplatin (12). CLPTM1L is a protein that is highly expressed in several types of tumor cells, including lung cancer, pancreatic cancer, prostate cancer, bladder cancer, glioma, melanoma, basal cell carcinoma, and cervical cancer (13)(14)(15)(16)(17)(18)(19)(20)(21)(22). The expression of CLPTM1L is associated with the apoptosis mechanism and related to the growth of the tumor cells and resistance against chemotherapy (12,23).…”

Section: Introductionmentioning

confidence: 99%

CLPTM1L expression predicts recurrence of patients with intermediate‑ and high‑risk stage IB‑IIB cervical cancer undergoing radical hysterectomy followed by TP as adjuvant chemotherapy

Awazu

Fukuda²,

Noda

et al. 2023

Oncol Lett

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According to the National Comprehensive Cancer Network clinical practice guidelines of cervical cancer, concurrent chemoradiotherapy or radiotherapy is suggested for patients who receive radical hysterectomy and have intermediate- and high-risk cervical cancer. However, adjuvant chemotherapy has been increasingly chosen given the adverse events associated with chemoradiotherapy or radiotherapy and the increase in evidence regarding the efficacy of adjuvant chemotherapy. Given that adjuvant chemotherapy is not a standard treatment at present, if recurrence after adjuvant chemotherapy could be predicted, it would assist the decision of gynecological oncologists selecting which adjuvant therapy (chemotherapy or radiation therapy) to use. Cleft lip and palate transmembrane protein 1-like protein (CLPTM1L; also known as cisplatin resistance-related protein 9) is associated with apoptotic mechanisms and is related to the proliferation of the tumor cells and resistance against chemotherapy. In the present study, the association between CLPTM1L expression and recurrence of intermediate- and high-risk stage IB-IIB cervical cancer in patients undergoing radical hysterectomy followed by treatment with cisplatin and paclitaxel (TP) as adjuvant chemotherapy was determined. Patients were divided into two groups: Recurrence group and no-recurrence group. CLPTM1L expression was examined using immunohistochemistry in paraffin-embedded sections using weighted scores. Regarding the characteristics of the patients, a histology of non-squamous cell carcinoma, lymph node metastasis and parametrium invasion were more common in the recurrence group compared with the non-recurrence group. In the recurrence group, CLPTM1L expression was significantly higher than that in the no-recurrence group. Next, patients were divided into low and high-expression groups based on the weighted score with a cut-off value of 6. In the high expression group, patients exhibited a higher rate of recurrence (37.5 vs. 5.1%) and had worse overall survival. Multivariate analysis revealed that high CLPTM1L expression was independently related to recurrence. In in vitro analysis, small interfering RNA-mediated knockdown of CLPTM1L enhanced the sensitivity of cervical cancer cells to cisplatin. In conclusion, the present study revealed that CLPTM1L expression may be a predictive biomarker of recurrence of intermediate- and high-risk stage IB-IIB cervical cancer in patients undergoing radical hysterectomy followed by TP as adjuvant chemotherapy.

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Study of Genetic Variants in Chromosome 5p15.33 Region in Non-Smoker Lung Cancer Patients

Cited by 5 publications

References 26 publications

The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers

The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers

Ethnicity-specific association between TERT rs2736100 (A > C) polymorphism and lung cancer risk: a comprehensive meta-analysis

CLPTM1L expression predicts recurrence of patients with intermediate‑ and high‑risk stage IB‑IIB cervical cancer undergoing radical hysterectomy followed by TP as adjuvant chemotherapy

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