Screening, diagnosis and genetic study of breast cancer patients in 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. doi: https://doi.org/10.12669/pjms.36.1.1059 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(1):---------. doi: https://doi.org/10.12669/pjms.36.1.1059 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.

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

Pakistan Journal of Medical Sciences ◽

10.12669/pjms.36.2.1059 ◽

2019 ◽

Vol 36 (2) ◽

Author(s):

Ayesha Isani Majeed ◽

Asmat Ullah ◽

Muniba Jadoon ◽

Wasim Ahmad ◽

Sheikh Riazuddin

Keyword(s):

Breast Cancer ◽

Cancer Patients ◽

Genetic Study ◽

Brca1 Gene ◽

Substantial Contribution ◽

Breast Cancer Patients ◽

Creative Commons ◽

Pakistani Origin ◽

Open Access Article

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.

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BRCA1 Gene Expression is Down Regulated in Both Familial and Sporadic Breast Cancer Cases in Baghdad- Iraq

Iraqi Journal of Science ◽

10.24996/ijs.2020.61.1.4 ◽

2020 ◽

pp. 34-41

Author(s):

Chemia Adil Ali ◽

Fadhel M. Lafta ◽

Maha Mhammed Al Sayyid ◽

Abdul-Ameer N. Ghaloub Al-Rekabi

Keyword(s):

Breast Cancer ◽

Gene Expression ◽

Cancer Patients ◽

Gene Expression Analysis ◽

Sporadic Breast Cancer ◽

Brca1 Gene ◽

Breast Cancer Patients ◽

Brca1 Expression ◽

Related Mortality

Breast cancer is the commonest cancer and the leading cause of malignancies-related mortality in women worldwide. Understanding the underlying biology of the disease could improve patients’ stratification and may offer novel therapeutic targets and strategies. This study was set to investigate the association between BRCA1 gene expression and some of the clinical features of breast cancer patients in Baghdad-Iraq. Eighty peripheral blood samples were collected from sixty patients diagnosed with breast cancer and twenty healthy age-matched controls for BRCA1 qPCR gene expression analysis. The results showed a significant reduction in BRCA1 gene expression in all of the breast cancer patients with the vast majority of them (75%) having BRCA1expression below 25%. The down regulation of BRCA1 expression also showed consistency in breast cancer patients of both sporadic (n=45) and family history (n=15) cases,with expression averages of 18% and 20.19%, respectively. Moreover, the redcuation in BRCA1 expression was negatively associated with the disease’s grades,asbreast cancer patients with the advanced stage III (n=19) showed the lowest expression average of BRCA1 (13.8%) as compared to those in stages II (n=29) and I (n=12) of the disease (17.7% and 19.8%, respectively). Overall, the study highlights the key role of BRCA1gene expression in the development of breast cancer and suggests its potential utility in the diagnosis strategies and preventing the progression of the disease, especially the sporadic type.

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