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 brea...

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Detalles Bibliográficos
Autores principales: Majeed, Ayesha Isani, Ullah, Asmat, Jadoon, Muniba, Ahmad, Wasim, Riazuddin, Sheikh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994902/
https://www.ncbi.nlm.nih.gov/pubmed/32063924
http://dx.doi.org/10.12669/pjms.36.2.1059
Descripción
Sumario: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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