SNP genotypingĪgena Bioscience MassARRAY iPLEX GOLD chemistry technology was used to perform genotyping. Quality check was performed using 0.8% gel electrophoresis and was quantified using the Eppendorf India Pvt. Qiagen DNA isolation kit (Catalogue number 51206) was employed for the genomic DNA isolation from a whole blood sample, using the manufacturer’s protocol. After written informed consent, blood samples, about 2 ml of venous blood was collected into EDTA vacutainers from patients and healthy controls (age and ethnicity matched). The Institutional Ethical Review Board (IERB) (SMVDU/IERB/18/70) of Shri Mata Vaishno Devi University approved this study. The cases were histo-pathologically confirmed with no evident history of any other cancer.
A total of 550 age-matched samples (150 cases and 400 controls) were recruited for the study. Sampling was carried out from January 2015 to December 2018. With an effort to bridge this gap, we conducted a case-control association study in population of post-menopausal women from North India. Keeping in view the missing heritability and scanty literature of BC in studied population group, we investigated cancer-associated variants to get an insight into their role in BC development among the population of Jammu and Kashmir. There are about 182 loci that have been identified and are susceptible to BC which accounts for 30% of the genetic heritability of BC. Various studies have identified the variations in high penetrant genes like BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11 along with moderate penetrant genes such as CHEK2, BRIP1, ATM and PALB2 and their association with BC. Early menarche and late menopause ensure a longer exposure to the hormone estrogen thus increasing the risk of BC. Despite the exacerbating rate of BC in J&K, there is a high susceptibility of post-menopausal women to develop breast cancer, especially with numerous factors underplay. A study conducted in the Kashmir province of Jammu and Kashmir highlighted BC to be the second most common cancer in women with 16.1% of all the cancers, closely following colorectal cancer (16.8%). BC is the leading cancer of women in India, with 27.7% of all the cancers in women. In 2018, about 18 million new cases of cancer were recorded and about 9.5 million deaths occurred with lung and BC being the leading cause of mortality in men and women, respectively. It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.Ĭancer is a neoplastic disease consisting of cancer cells that harbor numerous biological capabilities that occur due to the accumulation of various genetic aberrations and genomic alterations. The in-silico analysis was further used to fortify the above findings. We identified four SNPs of genes TCF21, SLC19A1, DCC, and ERCC1 showing significant association with BC in the population under study. In this present study, we analyzed 15 SNPs of 14 genes in 550 samples (150 cases and 400 controls). SNP genotyping employing the Agena MassARRAY offers a robust, sensitive, cost-effective method to assess multiple SNPs and samples simultaneously. The most common genetic variants studied are SNPs (Single Nucleotide Polymorphisms) that determine susceptibility to an array of diseases thus serving as a potential tool for identifying the underlying causes of breast carcinogenesis. High throughput genotyping of BC samples has led to the identification and characterization of biomarkers for the diagnosis of BC. Breast Cancer (BC) is associated with inherited gene mutations.
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