Evaluation Of Breast Cancer Susceptibility 1 Gene (Brca 1 Gene) Polymorphism And Finger Dermatoglyphic Patterns In Breast Cancer
Date
2020-10
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
University of Ghana
Abstract
Background: Breast cancer is the commonest malignancy among women and it is the primary cause of cancer deaths among women globally. Late diagnosis and difficulty in the prediction of prognosis of breast cancer has been cited as a factor for increased mortality rate in Ghana and this could be due to insufficient preliminary screening tool for risk and prognosis assessment. The mutant form of the single nucleotide polymorphism of breast cancer susceptibility 1 gene (BRCA1 gene) usually harboured within exon 11 is reported to be associated with the risk of breast cancer. Also, studies have reported separately that six or more fingerprint whorls as well as six or more fingerprint loops are associated with women with breast cancer. Therefore, this study sought to investigate the association between finger dermatoglyphic patterns and single nucleotide polymorphism of BRCA1 gene among individuals with breast cancer.
Aim: To determine the relationship between the single nucleotide polymorphism of BRCA1 gene and finger dermatoglyphic patterns in breast cancer patients.
Methodology: The study was cross-sectional. Seventy (70) women presenting with breast cancer and seventy (70) age-matched apparently healthy females were sampled. Study participants were recruited through simple random sampling at the Department of Surgery at the Korle-Bu Teaching Hospital and its immediate environment. Data for finger dermatoglyphic analysis were collected through the ink method. From each participant, 5 ml of venous blood was collected through venipuncture into an EDTA tube. DNA was extracted from the white blood cells (buffy coat). The extracted DNA was amplified through Polymerase Chain Reaction (PCR). Amplicons were sequenced and sequencing data was retrieved and aligned with the wild type template of BRCA1 gene. Data on tumour characteristics were summarized with a bar chart, a pie chart and tables
while data on fingerprint patterns were analyzed with chi-square. The mean frequency of fingerprint patterns among study participants were analyzed with independent samples student’s t-test. Six or more whorls and six or more loops were analyzed with chi square. Differences in data set with p < 0.05 were considered statistically significant. Association between fingerprint patterns (six or more loops) and tumour characteristics were analyzed with chi-square test.
Results: From the study, Luminal B was the predominant breast cancer molecular subtype among the patients. With regards to fingerprint patterns, the predominant fingerprint pattern among breast cancer participants was the loops. There was absence of an arch on the right ring finger of breast cancer participants and also six or more loops increased among individuals with breast cancer but p > 0.05. BRCA1 gene variants c.34311A>C, c.34320A>C and c.34321A>T are the predominant variants associated with breast cancer females in Ghana. Lastly, a higher frequency of the presence of six or more loops in relation to c.34311A>C were found among study participants.
Conclusion: From the study, a higher percentage frequency of presence of six or more loops in relation to c.34311A>C was observed among breast cancer females and apparently healthy females.
Description
MPhil. Human Anatomy
Keywords
predominant fingerprint, Polymerase Chain Reaction, fingerprint whorls, Ghana, BRCA1 gene