Contribution of BRCA1 germline mutation in patients with sporadic breast cancer
Autor: | Mahmood Akhtar Kayani, Rafshan Sadiq, Ishraat A Baloch, Saima Ashraf, Fraz Arshad Malik, Wen Guo Jiang, M Ansar, A Mir |
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Jazyk: | angličtina |
Předmět: |
Oncology
medicine.medical_specialty Pathology Splice site mutation business.industry Research Cancer Single-strand conformation polymorphism medicine.disease Penetrance Germline Breast cancer Germline mutation Internal medicine medicine Missense mutation Surgery business skin and connective tissue diseases |
Zdroj: | International Seminars in Surgical Oncology : ISSO |
ISSN: | 1477-7800 |
DOI: | 10.1186/1477-7800-5-21 |
Popis: | Hereditary artifacts in BRCA1 gene have a significant contributory role in familial cases of breast cancer. However, its germline mutational penetrance in sporadic breast cancer cases with respect to Pakistani population has not yet been very well defined. This study was designed to assess the contributory role of germline mutations of this gene in sporadic cases of breast cancer. 150 cases of unilateral breast cancer patients, with no prior family history of breast cancer and no other disorders or diseases in general with age range 35–75 yrs, were included in this study. Mutational analysis for hot spots on Exon 2, 3 and 13 of BRCA1 was done by using Single Strand Conformational Polymorphism (SSCP). Sequence analysis revealed five variants (missense) and one novel splice site mutation at exon 13. No germline mutation was observed on the remaining exons with respect sporadic breast cancer cases in Pakistani population. A vast majority of breast cancer cases are sporadic; the present study may be helpful for designing a better genetic screening tool for germline BRCA mutations in sporadic breast cancer patients of Pakistani population. Further studies involving a screening of entire coding region of BRCA1 is required to explore the merits of genetic diagnosis and counseling in breast cancer patients. |
Databáze: | OpenAIRE |
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