• Pak J Med Sci · Jan 2020

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

    • Ayesha Isani Majeed, Asmat Ullah, Muniba Jadoon, Wasim Ahmad, and Sheikh Riazuddin.
    • Ayesha Isani Majeed Department of Radiology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan. Health Services Academy, Islamabad, Pakistan.
    • Pak J Med Sci. 2020 Jan 1; 36 (2): 16-20.

    ObjectiveTo 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.MethodsThe 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.ResultsAnalysis 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.ConclusionThe present investigation showed that variations in BRCA1 made substantial contribution in causing hereditary/early-onset breast cancer in Pakistani women.Copyright: © Pakistan Journal of Medical Sciences.

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