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Updated: Dec 28, 2025
Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases
Published on: May 17, 2019
Screening, diagnosis and genetic study of breast cancer patients in Pakistan
Ayesha Isani Majeed1, Asmat Ullah2, Muniba Jadoon3
1Ayesha Isani Majeed Department of Radiology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan. Health Services Academy, Islamabad, Pakistan.
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.
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