A Case-Control Study on Combined Effects of Base Excision Repair and Nucleotide Excision Repair Gene Polymorphisms in Gastrointestinal Cancer Susceptibility.

Background: Gastrointestinal (GI) cancer constitute a major global health problem influenced by genetic and environmental factors. Genetic variations within base excision repair (BER and) nucleotide exchange repair (NER) pathway genes can impact DNA repair capacity. Investigating the combined effects of BER and NER pathway genes offers a promising avenue for understanding their impact on cancer susceptibility.

Association of Tumor Suppressor TP53 and TP21 Gene Polymoprhisms with Radiotherapy Induced Adverse Reactions in Head and Neck Cancer Patients.

Background: The current study was intended to analyze the genotype distribution of the tumor suppressor genes TP53 and TP21, and to investigate their potential association with acute radiotherapy -induced toxicities, such as skin reactions and mucositis, in normal tissues of head and neck cancer (HNC) patients receiving radiotherapy.

Materials & Methods: Two hundred and fifty HNC patients undergoing radiotherapy were enrolled in this study and the acute toxicity reactions and radiotherapy response were recorded. The potential association of two single nucleotide polymorphisms (SNPs) (rs1042522, rs28934571) of TP53 gene and (rs1801270, rs1059234) SNPs of TP21 gene, with the risk of acute skin toxicity reactions was analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing methods.

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.

Objective: A number of X-ray repair cross complementing group (XRCC) genes are found to be involved in the DNA repair by the repair 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.

Relevance of Polymorphism of Glutathione S-Transferase Genes (GSTM1 and GSTT1) in Diabetic Retinopathy and Diabetic Nephropathy.

Introduction: The causative factors of diabetic retinopathy and nephropathy are genetic as well as environmental. The Glutathione S-transferase gene family is involved in redox balance to reduce oxidative stress, which is an important factor associated with these major diabetic complications. The objective of this study was to investigate the association between the polymorphism of glutathione S-transferase genes (GSTM1 and GSTT1) and type 2 diabetes mellitus (T2DM) patients with diabetic retinopathy (DR) and diabetic nephropathy (DN).

Distribution of genetic polymorphisms of nucleotide excision repair genes and risk of gastrointestinal cancer: Findings from a case-control study.

Background: Gastrointestinal cancer (GI) is one of the most common and deadly cancers worldwide. In the present study, we assessed the association between single nucleotide polymorphisms (SNPs) within nucleotide excision repair (NER) pathway genes (xeroderma pigmentosum complementation group C [XPC], xeroderma pigmentosum complementation group G [XPG], and xeroderma pigmentosum complementation group D [XPD]) and the GI cancer risk in the rural population of Maharashtra.

Methods: The genotyping of XPC, XPD, and XPG genes was studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method using 200 clinically confirmed GI cancer cases and equal number of healthy controls.

Genetic Polymorphism of GSTM1, GSTT1, GSTP1 Genes and Breast Cancer Risk in Rural Maharashtra: Insights from a Case- Control Study.

Background: Breast cancer (BC) is a complex, multifactorial disease where genetic factors are one of the key determinants playing an important role in carcinogenesis process. The discrepancies in the reports all around the world in relation with the association of polymorphisms of glutathione S- transferase (GST) genes with BC risk encouraged us to assess the correlation of polymorphism in GST gene isoforms with BC susceptibility in the rural population of Maharashtra.

Methods: The association of GSTM1 and GSTT1 gene polymorphisms with BC risk was studied by polymerase chain reaction (PCR) method using 400 clinically confirmed BC cases and equal number of healthy controls.

An Overview of the Genetic Mechanisms of Colistin-Resistance in Bacterial Pathogens: An Indian Perspective.

Colistin resistance in bacteria is a growing global issue, given its role as a critical last-resort antibiotic, particularly for treating Gram-negative bacterial infections. Pathogens adopt multiple resistance mechanisms, mediated either by plasmids or chromosomal changes. Some of the most frequently observed strategies include the occurrence of plasmid-borne mobile colistin resistance (mcr) genes, enhanced efflux pump activity, mutations in the regulatory systems, and alterations in the lipid A structure.

Renin Angiotensin Aldosterone System Gene Polymorphisms among Type 2 Diabetic Patients with Retinopathy and Nephropathy.

Introduction: Diversified pathways are associated with the advancement of type 2 diabetes mellitus (T2DM) towards retinopathy and nephropathy. Experimental data have suggested the role of renin-angiotensin-aldosterone system (RAAS) gene polymorphism in diabetic nephropathy (DN) patients. Since very few combined studies were done for RAAS genes in T2DM patients with DN and diabetic retinopathy (DR), we tried to explore the association of certain RAAS gene polymorphisms in them.

Cytochrome P450 17 (CYP17), CYP2C19*2, CYP2C19*3 Gene Polymorphisms and Gastrointestinal Cancer Risk in Rural Maharashtra: A Hospital based Case-Control Study.

Background: Gastrointestinal cancer (GI) is one of the most common cancer worldwide rapidly increasing in India too. Cytochrome P450 (CYP) family comprise a group of phase I metabolizing enzymes which are important in xenobiotics and carcinogen metabolism. Several studies revealed the association of metabolic genes with risk of cancers, but the results were ambiguous to support the evidences in case of GI cancer risk.

Investigation of Genetic Polymorphisms Related GSTM1, GSTT1, GSTP1 Genes and their Association with Radiotherapy Toxicity among Head and Neck Cancer Patients.

Background: In this study we explored the association of polymorphisms of glutathione s transferase gene including GSTM1, GSTT1 and GSTP1 with adverse acute normal tissue reactions resulted from radiotherapy in HNC patients. We assessed the association of GSTM1 and GSTT1 null genotypes and Ile105Val of exon-5 and Ala114Val of exon-6 of GSTP1 gene polymorphisms with the risk of acute skin toxicity reactions after therapeutic radiotherapy in HNC patients.

Methods: Four hundred HNC patients administered with Intensity modulated radiation therapy were enrolled in this study for the evaluation of radiotherapy associated toxicity reactions.

Study on the Mobile Colistin Resistance (mcr-1) Gene in Gram-Negative Bacilli in a Rural Tertiary Care Hospital in Western Maharashtra.

Background: Colistin, a last-resort antibiotic for treating multidrug-resistant Gram-negative bacterial infections, has increased resistance as a result of the emergence of the gene. The 1gene, which confers colistin resistance, is often carried on plasmids, facilitating its spread by horizontal gene transfer among bacterial populations. The rising prevalence of 1mediated resistance poses significant challenges for infection control and treatment efficacy.

Genetic Polymorphisms of DNA Repair Genes and their Influence on Paclitaxel based Chemotherapy Induced Toxicity Reactions in Breast Cancer Patients.

Background: Systemic chemotherapy constitutes an indispensable component of breast cancer (BC) management, where therapeutic drug combinations such as anthracyclines, platinum compounds, and taxanes form the cornerstone of standard treatment protocols. Although DNA repair genes are pivotal in cancer susceptibility, their specific roles in mediating acute or chronic toxicity outcomes induced by chemotherapy remain undetermined. Consequently, this study was planned  to elucidate the impact of polymorphisms in base excision repair (BER) genes, including XRCC1, XRCC2, XRCC3, APE1, and hOGG1, on treatment response and toxicity outcomes in BC patients undergoing paclitaxel and doxorubicin-based chemotherapy within an Indian population.

Genetic Characterization of Extended-Spectrum Beta-Lactamase (ESBL) and Metallo-Beta-Lactamase (MBL) Producing from Diabetic Foot Ulcer (DFU).

Background: Antibiotic resistance in common pathogenic bacteria is linked with the genetic makeup. The genetic basis of antibiotic resistance may vary in different species or pathophysiological conditions.

Objectives: We studied the antibiotic resistance in isolates from DFU in the western Indian population.

CYP2D6, CYP2E1 Gene Polymorphisms and Gastrointestinal Cancer Risk in Rural Maharashtra: A Hospital Based Case-Control Study.

Background: Cytochrome P450 (CYP) is a family phase I metabolizing enzymes important in xenobiotics metabolism. Genetic polymorphisms of CYPs have been comprehensively studied for their association with a range of diseases including cancer risk. In this study we assessed single nucleotide polymorphism (SNP) CYP2D6 and CYP2E1 genes and their role in gastrointestinal (GI) cancer susceptibility in the rural population of Maharashtra.

Single Nucleotide Polymorphisms in APE1, hOGG1, RAD51 Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck Cancer Patients.

Background: Radiotherapy (RT) is a crucial treatment for head and neck cancer however, it causes adverse reactions to the normal tissue and organs adjacent to target tumor. The present study was carried out to investigate possible association of single nucleotide polymorphism in DNA repair genes with toxicity effects of radiotherapy on normal tissue.

Methods: Three hundred and fifty head and neck cancer patients receiving radiotherapy treatment were enrolled in this study.

Phenotypic and Genotypic Characterization of AmpC Beta-Lactamase in Clinical Isolates of Pseudomonas aeruginosa Findings From a Tertiary Care Hospital.

Background and aim is an opportunistic pathogen responsible for various healthcare-related infections, which are difficult to treat due to intrinsic and acquired resistance. This study aimed to investigate AmpC β-lactamase production using phenotypic and genotypic methods in strains isolated from a tertiary care hospital in Karad, Maharashtra, India. Material and methods Over one year, a descriptive cross-sectional study was conducted at the Department of Microbiology, Krishna Institute Medical Sciences, Krishna Vishwa Vidyapeeth, Karad.

Expression of caveolin 1 in oral squamous cell carcinoma.

Context: Caveolin-1 is a surface protein that is a major structural component of caveolae, which are vesicles of the plasma membrane integral to a variety of signal transduction molecules and transport functions. Caveolin-1 is a biomarker undergoing research & studies have shown an increased expression of Cav-1 in the stepwise carcinogenesis from the normal oral mucosa, hyperplastic mucosa, dysplastic mucosa, precancerous lesions to Oral Squamous Cell Carcinoma. In the present study Correlation between Caveolin-1 expression and grade of tumor was established statistically.

Interactive Association of XRCC1, XRCC2, XRCC3, and TP53 Gene Polymorphisms With Gastrointestinal Cancer Risk: Insights From a Hospital-Based Case-Control Study.

Background And Aim: Gastrointestinal (GI) cancer presents a significant worldwide health burden, influenced by a combination of genetic and environmental factors. This study endeavors to explore the combined effects of the , , , and genes that contribute to the heightened risk of GI cancer, shedding light on their combined influence on cancer susceptibility.

Materials And Methods: A total of 200 histologically confirmed cases of GI cancer and an equal number of controls were selected to examine genetic polymorphisms within the , , , and genes using the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP).

The Effect of CYP2C19*2 (rs4244285) and CYP17 (rs743572) SNPs on Adriamycin and Paclitaxel based Chemotherapy Outcomes in Breast Cancer Patients.

Background: Cytochrome P450 (CYP) are phase I metabolizing enzymes involved in detoxification of chemotherapeutic agents. Among the CYP gene family, including CYP1A1, CYP1B1, CYP2C, CYP2D, CYP2E and CYP17, their significance in cancer susceptibility is well established. However, there remains limited understanding regarding the polymorphisms of CYP2C19*2 and CYP17 and their potential correlation with chemotherapy-induced toxicity reactions in breast cancer (BC) patients.

Influence of (C1236T and C3435T) Polymorphisms of ABCB1 Gene on Chemotherapy Treatment Outcome and Toxicity in Breast Cancer Patients.

Background: ATP Binding Cassette Transporters (ABCB1) gene plays an important role in transport of different metabolites and anticancer drugs across the cell membrane. There is lack of knowledge on ABCB1 gene polymorphism and its correlation with Adriamycin or paclitaxel based chemotherapy induced toxicity in breast cancer patients. Therefore in this study, we explored the correlation of ABCB1 polymorphisms gene on response and toxicity in adriamycin and paclitaxel based chemotherapy in breast cancer patients from Indian population.

Genetic polymorphisms of CYP1A, CYP1B, CYP2C and risk of cervical cancer among rural population of Maharashtra: Findings from a hospital-based case-control study.

Background: Last few decades, multiple studies all over the world revealed the association of genetic polymorphism in cytochrome P450 (CYP) genes with risk of developing different type of cancers, but contradictory outcomes were evidenced in case of cervical cancer (CC) risk. Therefore, the discrepancies in earlier reports influenced us to evaluate the association of CYP1A1*2A rs4646903, CYP1B1*3 rs1056836, CYP2C8*2 rs11572103, CYP2C9*2 rs1799853, CYP2C9*3 rs1057910, and CYP2C19*2 rs4244285 polymorphisms and CC susceptibility in the women of rural population of Maharashtra.

Materials And Methods: In this case-control study, genetic association of the polymorphisms in CYP genes was studied by using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method.

Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck Cancer Patients: A Hospital Based Study from Maharashtra.

Background: The present study was planned to investigate possible association of single nucleotide polymorphisms (SNPs) of nucleotide excision repair (NER) genes such as XPC, XPD, XPG with acute radiation induced toxicities such as skin reactions and oral mucositis in normal tissue from head and neck cancer (HNC) patients receiving radiotherapy.  Methods: Two hundred and fifty HNC patients receiving radiotherapy were enrolled in this study and the acute toxicity reactions and radiation response were recorded. Association of SNPs rs2228001 of XPC, rs238406, rs13181 of XPD and rs17655 of XPG gene with normal tissue reactions in the form of dermatitis and mucositis were studied by PCR-RFLP and direct DNA sequencing.