Rajesh Wilson, (2020) Prevalence of Interleukin 7 Receptor Alpha Thr244ile Genetic Polymorphism among Breast Cancer patients. Masters thesis, Coimbatore Medical College, Coimbatore.
|
Text
201300720rajesh_wilson.pdf Download (5MB) | Preview |
Abstract
INTRODUCTION: Cancer biology is the least understood aspects in spite of advanced modern genetics. Numerous studies have shown that germ line polymorphisms play a significant role in pathogenesis and in treatment response. Various studies in rodents show differential susceptibility to cancer metastasis which are heritable in nature. The pursuit for discovery of cancer controlling genes are in progress. The identification of specific genes which control the cancer pathogenesis and treatment resistance awaits further studies.Cancers have a multi-factorial genetic susceptibility. Breast cancers may be hereditary; however environmental factors clearly influence the penetrance of hereditary forms of breast cancer, and both genetic and environmental factors contribute to sporadic forms of Breast cancer. The identification of BC susceptibility genes (BRCA 1 and BRCA 2) has provided important insights into Breast Cancer. Mutation in tumour suppressor genes BRCA 1 and BRCA 2 are responsible for 80% to 90% of single gene familial breast cancers and about 3% of all breast Cancers. AIM OF THE STUDY To observe the prevalence of Interleukin 7 Receptor Alpha Thr244ile genetic polymorphism among breast cancer patients attending Regional Cancer Centre at Coimbatore Medical College & Hospital. OBJECTIVES: 1. To identify the presence of Single Nucleotide Polymorphism (SNP) among known breast cancer patients attending surgical oncology department at our Medical College Hospital. 2. To assess whether this polymorphism can be used as a biomarker among breast Cancer patients in our hospital. MATERIALS AND METHODS: The population selected for the study group includes patients attending the Regional Cancer Centre, Coimbatore Medical College Hospital. Patients were from Coimbatore, Tirupur, Pollachi, Valparai, Udumalpet, Mettupalayam, Niligiris and also from bordering districts of Kerala like Palaghat. Thus this group clearly represents the South Indian population minimising the potential selection bias. Thus this cohort was genotyped to identify the prevalence of Interleukin 7 Receptor alpha Thr244Ile genetic polymorphism. Statistical Study Design : Observational study. Study Place: Government Medical College Hospital, Coimbatore. Study Sample: Blood sample of Breast Carcinoma patients attending Regional Cancer Centre at Coimbatore Medical College Hospital. No of Samples: 70. Study period: One year (March 2018 till May 2019). Inclusion criteria: 1. Age > 18 years and < 65 years. 2. Diagnosed breast cancer patients. Exclusion criteria: 1. Patients with autoimmune disorders. 2. Patients with familial history of breast cancer. 3. Patients who developed secondary breast cancer. RESULTS: The results of Real Time Polymerase Chain Reaction, also called Quantitative Real Time Polymerase Chain Reaction (qPCR/qrt-PCR) or Kinetic Polymerase Chain Reaction (KPCR), is obtained as shown below after the amplification was carried out in Biorad CFX96 Real Time PCR with the following cycling conditions mentioned in methodology. The melt curve showed the presence of the Interleukin 7 Receptor Alpha Thr244ile polymorphism in all the patients in the range of temperatures between 78 till 88. There were other insignificant polymorphisms identified in nearby regions which can be precisely detected only through gene sequencing. CONCLUSION: This is a novel study done in our population showing that there is some association between autoimmunity coding genes with breast cancer. No other studies other than this have dwelled upon in this concept in India and especially in South Indian population. It is also pertinent to note at this juncture that 2018 Nobel Prize for Medicine was jointly awarded to James P Allison and Tasuku Honjo for their discovery of cancer therapy by negative immune regulation.
| Item Type: | Thesis (Masters) |
|---|---|
| Additional Information: | 201723652 |
| Uncontrolled Keywords: | Interleukin-7, Breast cancer, Immunotherapy, SNP, autoimmunity, Indian population. |
| Subjects: | MEDICAL > Biochemistry |
| Depositing User: | Subramani R |
| Date Deposited: | 03 Feb 2021 02:57 |
| Last Modified: | 03 Feb 2021 02:57 |
| URI: | http://repository-tnmgrmu.ac.in/id/eprint/13762 |
Actions (login required)
 |
View Item |
