Screening, diagnosis and genetic study of breast cancer patients in 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.
 doi: https://doi.org/10.12669/pjms.36.2.1059
 How to cite this:Majeed AI, Ullah A, Jadoon M, Ahmad W, Riazuddin S. Screening, diagnosis and genetic study of breast cancer patients in Pakistan. Pak J Med Sci. 2020;36(2):16-20. doi: https://doi.org/10.12669/pjms.36.2.1059
 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Breast cancer in a teenage girl with BRCA mutation: A case report from a low middle-income country

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Two hours method for RNA and DNA co-extraction from blood of coronary artery disease patients: Fast, simple and economical technique

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Correlation between the risk of lymph node metastasis and the expression of GBP1 in breast cancer patients

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“… 3 Lymph node metastasis (LNM), which is a primary cause of increased mortality in BC, can occur if timely and effective treatment is not taken. 1 , 3 …”

“… 4 , 5 However, years of practice have shown that ALND causes minimal surgical trauma complications such as lymphedema and decreased arm mobility. 3 , 4 , 6 Additionally, nausea and vomiting, alopecia, liver and kidney damage caused by chemotherapy are side effects which can seriously affect patient prognosis. 7 Therefore, it is important to evaluate the risk of LNM and identify the relevant influencing factors of BC with LNM to improve the prognosis and quality of life of patients.…”