Screening, diagnosis and genetic study of breast cancer patients in Pakistan

Ayesha Isani Majeed; Asmat Ullah; Muniba Jadoon; Wasim Ahmad; Sheikh Riazuddin

doi:10.12669/pjms.36.2.1059

Screening, diagnosis and genetic study of breast cancer patients in Pakistan

Pak J Med Sci. 2020 Jan-Feb;36(2):16-20. doi: 10.12669/pjms.36.2.1059.

Authors

Ayesha Isani Majeed¹, Asmat Ullah², Muniba Jadoon³, Wasim Ahmad⁴, Sheikh Riazuddin⁵

Affiliations

¹ Ayesha Isani Majeed Department of Radiology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan. Health Services Academy, Islamabad, Pakistan.
² Asmat Ullah, Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan. Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
³ Muniba Jadoon, Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
⁴ Wasim Ahmad, Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
⁵ Sheikh Riazuddin, Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.

Abstract

Objective: To determine the role of variants in BRCA1 gene in breast cancer development, women of Pakistani origin, diagnosed with breast cancer, were screened for variants in the BRCA1.

Methods: The present study involved screening of 5000 women for breast cancer. 302 women were diagnosed with breast cancer. Using Sanger sequencing, DNA extracted from peripheral blood of 100 patients was screened for disease causing variants in the BRCA1.

Results: Analysis of sequenced data revealed two frame shift (Gly312Trpfs*8, Ala322Glyfs*4), six missense (p.Glu362Lys, p.Lys651Arg, p.Asp693Asn, p.Pro871Leu, p.Glu1134Lys, p.Lys1183Arg), four synonymous (p.Thr327Thr, p.Ser694Ser, p.His771His, p.Gln1135Gln), and two intronic variants (g.75407T>C, g.75401_75401delT) in the patients.

Conclusion: The present investigation showed that variations in BRCA1 made substantial contribution in causing hereditary/early-onset breast cancer in Pakistani women.

Keywords: BRCA1 Variants; Breast Cancer; Sanger Sequencing.