The XPD /ERCC2, RAD51 and hOGG1 gene polymorphisms in Turkish patients with advanced-stage gastric cancer

Gastric adenocarcinoma (GC) is a common tumor with high morbidity and mortality. Only 7% of patients with GC are diagnosed before age 50 (early onset gastric cancer (EOGC)), and their characteristics have been poorly described. We aimed to describe clinical, molecular, and genetic characteristics of EOGC. A total of 309 patients with EOGC were retrospectively studied in four Spanish centers. Personal information, family history, and tumor information were registered. Germinal genetic analysis was performed in patients who met current criteria of a hereditary syndrome at the time of diagnosis. The median age at diagnosis was 44 years. The majority (73.3%) of tumors were diffuse, and 78.3% were diagnosed in an advanced stage. Familial aggregation of GC was present in 18/117 (15.4%) cases, and 5/117 (4.3%) met criteria for familial GC. MMR-IHC was performed in 126/309 (40.7%) tumors: 4/126 (3.1%) had loss of expression in MLH1/PMS2, without an associated germline mutation. Sixteen germline genetic analyses were performed, detecting a pathogenic variant in four (25%) cases: one in BRCA2, one in TP53, and two in CDH1. Most EOGC are diffuse and diagnosed in an advanced stage. In these patients, DNA MMR system deficiency is uncommon. Although familial aggregation was observed in only 15% of cases, a germline mutation was found in 25% of patients tested with clinical criteria. This demonstrates that EOGC has a marked genetic heterogeneity, reinforcing the importance of an accurate genetic counseling and enhancing the emerging use of multigene panels.

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Role of Xenobiotic-Metabolizing Enzyme Gene Polymorphisms and Interactions with Environmental Factors in Susceptibility to Gastric Cancer in Kashmir Valley

Journal of Gastrointestinal Cancer ◽

10.1007/s12029-009-9072-0 ◽

2009 ◽

Vol 40 (1-2) ◽

pp. 26-32 ◽

Cited By ~ 38

Author(s):

Manzoor A. Malik ◽

Rohit Upadhyay ◽

Rama D. Mittal ◽

Showket A. Zargar ◽

Dinesh R. Modi ◽

...

Keyword(s):

Gastric Cancer ◽

Environmental Factors ◽

Gene Polymorphisms ◽

Kashmir Valley ◽

Enzyme Gene ◽

Metabolizing Enzyme

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IL-1 cluster gene polymorphisms in Turkish patients with Behçet’s disease

International Journal of Immunogenetics ◽

10.1111/j.1744-313x.2011.01006.x ◽

2011 ◽

Vol 38 (4) ◽

pp. 295-301 ◽

Cited By ~ 18

Author(s):

A. A. Özçimen ◽

K. Dilek ◽

Ü. Bingöl ◽

H. Sarıcaoğlu ◽

A. Sarandöl ◽

...

Keyword(s):

Behçet’S Disease ◽

Gene Polymorphisms ◽

Behcet’S Disease ◽

Behçet's Disease ◽

Behcet's Disease ◽

Turkish Patients ◽

Cluster Gene

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TNF-α gene polymorphisms in Iranian Azeri Turkish patients with Behcet’s Disease

Rheumatology International ◽

10.1007/s00296-009-1134-x ◽

2009 ◽

Vol 30 (2) ◽

pp. 285-289 ◽

Cited By ~ 29

Author(s):

Mortaza Bonyadi ◽

Zohreh Jahanafrooz ◽

Mohsen Esmaeili ◽

Susan Kolahi ◽

Alireza Khabazi ◽

...

Keyword(s):

Behçet’S Disease ◽

Gene Polymorphisms ◽

Behcet’S Disease ◽

Behçet's Disease ◽

Behcet's Disease ◽

Tnf Α ◽

Turkish Patients

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Associations between cytokine gene polymorphisms and susceptibility to Helicobacter pylori infection and Helicobacter pylori related gastric cancer, peptic ulcer disease: A meta-analysis

PLoS ONE ◽

10.1371/journal.pone.0176463 ◽

2017 ◽

Vol 12 (4) ◽

pp. e0176463 ◽

Cited By ~ 13

Author(s):

Jingjing Ma ◽

Dandan Wu ◽

Xue Hu ◽

Jiao Li ◽

Mingwei Cao ◽

...

Keyword(s):

Gastric Cancer ◽

Helicobacter Pylori ◽

Peptic Ulcer ◽

Peptic Ulcer Disease ◽

Gene Polymorphisms ◽

Meta Analysis ◽

Helicobacter Pylori Infection ◽

Cytokine Gene ◽

Ulcer Disease ◽

Cytokine Gene Polymorphisms

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GASTRIC CANCER: A 5 YEAR RETROSPECTIVE ANALYSIS OF CLINICAL, PATHOLOGICAL AND TREATMENT ASPECTS FROM A TERTIARY CARE CENTER IN SOUTH INDIA.

10.36106/gjra/0711411 ◽

2021 ◽

pp. 129-132

Author(s):

B. Ramkumar ◽

J. Kannan ◽

Ingersal. N ◽

Srigopal mohanty ◽

Amit saklani ◽

...

Keyword(s):

Risk Factors ◽

Gastric Cancer ◽

South India ◽

Care Center ◽

Tertiary Care ◽

Tumor Location ◽

Advanced Stage ◽

Tertiary Care Center ◽

Nodal Disease ◽

Female Ratio

Context: Gastric cancer(GC) is fth most common cancer worldwide. Mostly presents with advanced stage and poor overall survival. Methods: Retrospective study on clinical, pathological, pattern of distant metastasis(DM) , treatment aspect of GC treated between January 2014 to December 2018 in a tertiary care center in south India. Statistical analysis : Chi square test and multivariate analysis (MVA) were used for analysis. P <0.05 was considered signicant. Results: Median age at diagnosis is 57 years. Higher male : female ratio. Most common presentation was abdominal pain followed vomiting. Malignant Gastric outlet obstruction(MGOO) was present in 22.7%. Histologically , all patients had adenocarcinoma with predominantly moderate differentiation (51.1%). Liver (19.1%)was most common site of metastasis . Curative surgery was done in 35.5% of patients. D2 lymph node dissection was performed in 12.4% of patient. Patients were given perioperative /preoperative/ adjuvant / palliative chemotherapy. MVA revealed history of tobacco use, body of stomach tumor location, nodal disease were risk factors for DM. Conclusion : The present analysis revealed use of tobacco, alcohol intake were main risk factors for GC. Most of the patients present in advanced stage , so prevention by avoiding risk factors and early detection by signs , symptoms and endoscopy are necessary. Use of tobacco,site of tumor location, nodal disease were factors associated with DM. Aggressive management with both surgery and chemotherapy is warranted for locally advanced disease.

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Susceptibility of gastric cancer according to leptin and leptin receptor gene polymorphisms in Korea

Journal of the Korean Surgical Society ◽

10.4174/jkss.2012.83.1.7 ◽

2012 ◽

Vol 83 (1) ◽

pp. 7 ◽

Cited By ~ 16

Author(s):

Eun-Young Kim ◽

Hyung-Min Chin ◽

Seung-Man Park ◽

Hae-Myung Jeon ◽

Woo-Chul Chung ◽

...

Keyword(s):

Gastric Cancer ◽

Gene Polymorphisms ◽

Leptin Receptor ◽

Receptor Gene ◽

Receptor Gene Polymorphisms

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Impact of polymorphisms in DNA repair genes XPD, hOGG1 and XRCC4 on colorectal cancer risk in a Chinese Han Population

Bioscience Reports ◽

10.1042/bsr20181074 ◽

2019 ◽

Vol 39 (1) ◽

Cited By ~ 1

Author(s):

Dexi Jin ◽

Min Zhang ◽

Hongjun Hua

Keyword(s):

Colorectal Cancer ◽

Gene Polymorphisms ◽

Colorectal Carcinogenesis ◽

Chinese Han Population ◽

Control Group ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Hogg1 Gene ◽

Repair Genes

Abstract Background: This research aimed to study the associations between XPD (G751A, rs13181), hOGG1 (C326G, rs1052133) and XRCC4 (G1394T, rs6869366) gene polymorphisms and the risk of colorectal cancer (CRC) in a Chinese Han population. Method: A total of 225 Chinese Han patients with CRC were selected as the study group, and 200 healthy subjects were recruited as the control group. The polymorphisms of XPD G751A, hOGG1 C326G and XRCC4 G1394T loci were detected by the RFLP-PCR technique in the peripheral blood of all subjects. Results: Compared with individuals carrying the XPD751 GG allele, the A allele carriers (GA/AA) had a significantly increased risk of CRC (adjusted OR = 2.109, 95%CI = 1.352–3.287, P=0.003). Similarly, the G allele (CG/GG) of hOGG1 C326G locus conferred increased susceptibility to CRC (adjusted OR = 2.654, 95%CI = 1.915–3.685, P<0.001). In addition, the T allele carriers (GT/TT) of the XRCC4 G1394T locus have an increased risk of developing CRC (adjusted OR = 4.512, 95%CI = 2.785–7.402, P<0.001). The risk of CRC was significantly increased in individuals with both the XPD locus A allele and the hOGG1 locus G allele (adjusted OR = 1.543, 95%CI = 1.302–2.542, P=0.002). Furthermore, individuals with both the hOGG1 locus G allele and the XRCC4 locus T allele were predisposed to CRC development (adjusted OR = 3.854, 95%CI = 1.924–7.123, P<0.001). The risks of CRC in XPD gene A allele carriers (GA/AA) (adjusted OR = 1.570, 95%CI = 1.201–1.976, P=0.001), hOGG1 gene G allele carriers (CG/GG) (adjusted OR = 3.031, 95%CI = 2.184–4.225, P<0.001) and XRCC4 gene T allele carriers (GT/TT) (adjusted OR = 2.793, 95%CI = 2.235–3.222, P<0.001) were significantly higher in patients who smoked ≥16 packs/year. Conclusion: Our results suggest that XPD G751A, hOGG1 C326G and XRCC4 G1394T gene polymorphisms might play an important role in colorectal carcinogenesis and increase the risk of developing CRC in the Chinese Han population. The interaction between smoking and these gene polymorphisms would increase the risk of CRC.

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