DNA base excision repair genes variants rs25487 (X-ray repair cross-complementing 1) and rs1052133 (human 8-oxoguanine glycosylase 1) with susceptibility to ovarian cancer in the population of the Jammu region, India

Background: Ovarian cancer is highly prevalent in the population of Jammu, in India; the ovarian cancer ranks third among other types of cancer prevalent in females. However, association studies on ovarian cancer are lacking in this region. We aimed to investigate the disease susceptible variants rs1052133 (human 8-oxoguanine glycosylase 1 [hOGG1]) and rs25487 (X-ray repair cross-complementing 1 [XRCC1]) with ovarian cancer in population of Jammu, India. Materials and Methods: The study conducted in the Shri Mata Vaishno Devi University is a 3-year study which included a total of 280 well-characterized samples (130 ovarian cancer cases and 150 healthy controls). hOGG1 and XRCC1 polymorphisms were determined by polymerase chain reaction-based restriction fragment length polymorphism, and these genotyping results were confirmed by Sanger sequencing. Hardy–Weinberg equilibrium for both single-nucleotide polymorphisms (SNPs) was assessed using the Chi-square test. The allele and genotype-specific risks were estimated by odds ratios with 95% confidence intervals. Results: In this preliminary study, SNP rs1052133 showed protection with ovarian cancer (P = 0.042). The SNP rs25487 was not found associated with ovarian cancer (P = 0.271). Conclusion: Our results indicate that the G allele of rs1052133 imparts protection to the population whereas variant rs25487 was not associated with ovarian cancer in population from the Jammu region, indicating that larger sample size is needed for further statistical validation. Further, association of other SNPs in these genes should also be carried out as their role cannot be ruled out.

Genetic variant rs10937405 of TP63 and susceptibility to lung cancer risk in north Indian population

Several studies including genomewide association studies (GWASs) in diverse ethnic populations have reported a significant association of genetic variant rs10937405 of TP63 with nonsmall cell lung cancer (NSCLC). However, no data are available from any Indian population on the association of this variant with NSCLC. Using TaqMan genotyping chemistry, we conducted a case–control study involving 190 NSCLC cases and 400 ethnic, age-matched controls to explore the association of rs10937405 genetic variant with NSCLC in patients from north India. Our data support that the rs10937405 variant is also significantly associated with the NSCLC and is a risk factor in the north Indian populations to develop NSCLC. However, unlike most other studies, the wild-type allele T appears to be the risk allele, as its frequency was significantly higher in the cases than controls (0.439 in cases versus 0.383 in controls. OR=1.95 (1.23–3.09 at 95% CI); P value (adjusted)= 0.004). Genetic association was also observed by applying different genetic models. The present study provides important information of the genetic aetiology of NSCLC and strengthens GWAS findings, highlighting the role of TP63 in lung cancer risk.

Rhinoscleroma Mimicking Malignancy.

Rhinoscleroma is an uncommon chronic granulomatous disease of the upper airways affecting nasal cavity, nasopharynx, larynx, trachea, and bronchi. The oral cavity, para nasal sinuses, and soft tissues of the lips and nose can be affected. In rare cases, rhinoscleroma spreads to the orbit. We present a case that was being evaluated for bilateral neck nodal mass, was confused with malignancy and subsequently, on thorough clinicopathological evaluation, was diagnosed as rhinoscleroma. This case underlines the importance of thorough clinical evaluation and diagnostic workup before instituting any sort of treatment in oncology.

The Effect of Smoking Habits on Different Histological Types of Lung Cancer in Kashmir.

A prospective study was conducted with the aim to determine the effect of smoking habits on different histological types of lung cancer. A total of 100 patients that included 91 males and 9 females with histological documentation of lung cancer were enrolled in the study. A detailed history was taken in each case that revealed active smokers 90%. Of which cigarette smokers were 40%, Hooka and Bidi smokers 17.7% and 5.6% of cases respectively. We also observed lung cancer was more common among farmers 34% who were active hooka smokers. Squamous cell carcinoma was the main histological type of lung cancer associated with all types of smoking habits.