Mutation in Exon2 of BRCA1 Gene in Adult Bengali Bangladeshi Female Patients with Breast Cancer: An Experience from Two Tertiary-Care Hospitals

Abstract

Breast cancer is the most common cancer of women worldwide. The Global Cancer Project provides evidence that 20,88,849 (11.6% of all cancers) new cases of breast cancer were identified around the world in the year 2018 and 6,26,679 deaths (6.6% of all cancer deaths) occurred in the same year (Globocan, 2018). It is predicted that the new cases of breast cancer patients will reach up to 22 million in next two decades (Ghoncheh et al., 2016). Like Western countries, it is now growing strongly in Asia and has become the leading cause of death among women (Story et al., 2011). Many human diseases, including breast cancer, are caused by genetic defect and in the recent years, researchers and scientists are investigating the genetic cause for understanding the course of these diseases as well as for finding the way of their prevention and

Association Between Brca1 Polymorphisms and Breast Cancer in Saarc Countries

“…A total of 5 mutations 48TtoG, 67GtoC and 75CtoA in exon 2 of BRCA1 were identified in Bangladesh. 8 And in another study, 3 novel mutations were found in a patient, 2/3 mutant sequences had effect on amino acid coding. 20 In Nepalese, The prevalence of 185delAG in breast cancer patients was found to be 8% but 1294del40 was not appeared.…”

“…27 National Institute of Cancer Research and Hospital of Bangladesh reported that the average age among breast cancer patients was 41.8. 8 In Nepalian study, the mean age of onset breast cancer was 42.59. 5 Figure1 shows the average age determined from selected studies of Pakistan, India, Sri Lanka, Bangladesh and Nepal.…”

“…One intronic variant (IVS7+38TtoC) was found common variation in India and Sri Lanka (Table7). A total of 5 mutations 48TtoG, 67GtoC and 75CtoA in exon 2 of BRCA1 were identified in Bangladesh 8. And in another study, 3 novel mutations were found in a patient, 2/3 mutant sequences had effect on amino acid coding 20.…”

Absence of Germline BRCA1 c.68_69delAG and c.5266dupC Mutations among Hormone Receptor-negative Breast Cancer Patients: A First Impression at a Tertiary Cancer-care Facility in Tanzania

“…The BRCA1 exon 2 and 20 were amplified in a final volume of 50 µL containing: 50 ng genomic DNA, 25 µL OneTaq Quick-load 2X Master Mix with Standard Buffer (NEB), and 1 µL of 10 µM each forward and reverse primer. The primers for the c.68_69delAG in exon 2 and the c.5266dupC in exon 20 mutations were adopted from Chowdhury et al (2020) and Mahfoudh et al (2019), respectively, and are given in Table 1. The primers for both exons were designed to anneal within the exon-intron boundaries of both 5' and 3' ends.…”