Sequence Variation in X-ray Cross Complimenting (XRCC4, XRCC5, XRCC6 and XRCC7) Genes and the Risk of Gastrointestinal Cancer in South-Western Maharashtra - A Hospital Based Case-Control Study

Sep 23, 2026

Uploaded by Cart

Objective: XRCC genes participate in DNA repair of single strand breaks (SSBs), and functional polymorphic variants may alter repair capacity, increasing genetic susceptibility to multiple cancers, including gastrointestinal (GI) tumors. Methods: A hospital-based case-control study included 200 histologically confirmed GI cancer cases and 200 controls, genotyped for XRCC4, XRCC5, XRCC6 and XRCC7 using PCR-RFLP. Results: Tobacco use and alcohol habit showed strong associations; specific XRCC4, XRCC5 promoter repeats, and XRCC7 variants increased GI cancer risk, while other tested variants showed no association. Conclusion: Larger multicentric studies are needed to substantiate findings.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages9

Reading Time23 min

AccessFree to download

Abstract

Introduction

Editorial Process

Submission and Acceptance

RESEARCH ARTICLE Editorial Process: Submission:07/29/2024 Acceptance:05/18/2025 Sequence Variation in X-ray Cross Complimenting (XRCC4, XRCC5, XRCC6 and XRCC7) Genes and the Risk of Gastrointestinal Cancer in South-Western Maharashtra: A Hospital Based Case-Control Study Madhavi Narayan Patil1*, Parixit Jayprakash Bhandurge2, Sandeep Sambhajirao Kadam3, Kailas Dhondibhau Datkhile4 Abstract Objective: A number of X-ray repair cross complementing group (XRCC) genes are found tobe involved in the DNA repair by therepair of single strand breaks (SSBs). Variation in these genes may lead to variation in DNA repair capacity, thereby increasing the genetic susceptibility to numerous human cancers. Among the known genetic polymorphisms of the DNA repair genes, there are many functional genetic variants have been identified in the XRCC genes particularly XRCC4, XRCC5, XRCC6 and XRCC7 that shows the positive association with the multiple cancers including cancers of GI tract. Therefore, in the present study, polymorphic variants of XRCC4, XRCC5, XRCC6 and XRCC7 were chosen to be studied in association with gastrointestinal cancer susceptibility in the south western Maharashtrian population. Methods: A total of 200 histologically confirmed cases of gastrointestinal cancer (GI) and 200 hospital-based controls were included in the study. The genotyping for XRCC4, XRCC5, XRCC6 and XRCC7genes was carried out by polymerase chain reaction-restriction fragment length polymorphism. Results: We found that tobacco consumption in any form either smoking or chewing (OR =4.03; 95% CI: 2.65-6.11) and alcohol drinking habit (OR =4.45; CI: 2.15–9.22) is strongly associated with gastrointestinal cancer risk. Similarly, data analysis of cases and control group showed that XRCC4.2 G1394T is significantly associated with GI cancer risk. Our studies also revealed that fewer repeats (1R/1R, 0R/0R) of XRCC5 in the promoter region were found to be associated with the increased risk of GI cancer. In case of XRCC7 6721G>T our findings suggest a strong association with development of GI cancer risk in south-western Maharashtrian population. However, we did not find any association of polymorphic variants of XRCC4.1 cd247, XRCC4.5 Intron-7 and XRCC6 61C>G with GI cancer risk in the study population. However, multicentric studies with larger sample size are needed to substantiate the findings. Keywords: GI Cancer-Gene polymorphism-PCR-RFLP-XRCC4-XRCC5-XRCC6-XRCC7 Asian Pac J Cancer Prev, 26 (5), 1571-1579 Introduction Gastrointestinal (GI) cancer is a collective term used to describe malignant conditions that affect the organs of digestive tract including the sites from the oesophagus to the anus and its accessory organs like pancreas, liver & gallbladder. Among all organ cancers, malignancies of GI tract are the second most common form of cancer in the men and third most common among the females in Asia and Worldwide [1]. In 2020, International agency for research on cancer (IARC), global cancer observatory reported 3,544,225 deaths worldwide from the most common GI cancers which accounts about 36% among all types of cancers, with a further 5,026,243 new GI cases diagnosed, accounting about 26%[2]. The latest publication from the National Cancer Registry Program (NCRP) stated that about 19.7% of all cancers that occurred in 2020 among the Indian population were GI cancer. India points the differences in GI cancer incidence rates, indicating that the cancers of esophagus, liver, gallbladder and stomach are leading in north eastern region as compared to the rest parts of India [3]. The etiology of GI cancer is multifaceted 1Scientist grade-I, Dr. Prabhakar Kore, Basic Science Research Center, KLE Academy of Higher Education and Research (KAHER), Taluka- Belagavi, Dist-Belagavi, Pin-590010, Karnataka, India. 2Department of Pharmaceutical Chemistry, KLE College of Pharmacy, KLE Academy of Higher Education and Research (KAHER), Taluka-Belagavi, Dist

FAQs

What is the main objective of the study?

To evaluate whether polymorphic variants of XRCC4, XRCC5, XRCC6 and XRCC7 genes are associated with gastrointestinal cancer susceptibility in the south-western Maharashtra population.

How were cases and controls selected and how were genotypes determined?

The study included 200 histologically confirmed GI cancer cases and 200 hospital-based controls. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for XRCC4, XRCC5, XRCC6 and XRCC7.

Which exposures and gene variants were associated with higher GI cancer risk?

Tobacco consumption and alcohol drinking habit were strongly associated with GI cancer risk. XRCC4.2 G1394T, XRCC5 promoter repeat patterns (1R/1R, 0R/0R), and XRCC7 6721G>T were also linked to increased GI cancer risk.

Sep 23, 2026

Uploaded by Cart