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

Majeed, Ayesha Isani and Ullah, Asmat and Jadoon, Muniba and Ahmad, Wasim and Riazuddin, Sheikh (2019) Screening, diagnosis and genetic study of breast cancer patients in Pakistan: Genetic study of breast cancer. Pakistan Journal of Medical Sciences, 36 (2). pp. 16-20. ISSN 1682-024X

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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.

Item Type: Article
Subjects: STM Digital > Medical Science
Depositing User: Unnamed user with email support@stmdigital.org
Date Deposited: 20 Apr 2023 08:13
Last Modified: 05 Sep 2024 11:49
URI: http://research.asianarticleeprint.com/id/eprint/628

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