Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer
Breast cancer is a complex disease characterized by a myriad of genetic alterations. Single nucleotide polymorphisms are particularly relevant due to small allelic variations. BRCA1 and BRCA2 genes are notably associated with inherited breast and ovarian cancers. Alterations in other genes were al...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Liaquat National Hospital and Medical College
2024-10-01
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| Series: | Journal of Liaquat National Hospital |
| Subjects: | |
| Online Access: | https://journals.lnh.edu.pk/jlnh/pdf/feda4db7-349d-4032-929c-84ced573f014.pdf |
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| Summary: | Breast cancer is a complex disease characterized by a myriad of genetic alterations. Single nucleotide polymorphisms are particularly relevant
due to small allelic variations. BRCA1 and BRCA2 genes are notably associated with inherited breast and ovarian cancers. Alterations in other
genes were also identified. Mutations in BRCA1 and BRCA2 tumor suppressor genes play a significant role in development. Studies in the
Pakistani population revealed significant differences in gene mutations. In 31 families, 8 had male and 23 had female breast cancer, substantial
findings were observed. The analysis encompassed full coding sites of these genetic variations. Among eight families with male BC, changes
were detected in 2 BRCA1 and 4 BRCA2 genes. Additionally, eight alterations were noted in 23 females from site-specific families, with 4 in
BRCA1 and 4 in BRCA2. These findings underscore the importance of genetic variations, especially in the BRCA1 and BRCA2 genes, in the
context of breast cancer susceptibility within diverse populations. |
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| ISSN: | 2959-1805 2960-2963 |