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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| Format: | Article |
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Liaquat National Hospital and Medical College
2024-10-01
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| Series: | Journal of Liaquat National Hospital |
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| Online Access: | https://journals.lnh.edu.pk/jlnh/pdf/feda4db7-349d-4032-929c-84ced573f014.pdf |
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| author | Saba Munir Yasir Nawaz Fouzia Tanvir Maria Akram Muhammad Luqman Javaria Zafar Muhammad Zaman |
| author_facet | Saba Munir Yasir Nawaz Fouzia Tanvir Maria Akram Muhammad Luqman Javaria Zafar Muhammad Zaman |
| author_sort | Saba Munir |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-967a41c8f1024fd2a8abe97e01234b87 |
| institution | OA Journals |
| issn | 2959-1805 2960-2963 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Liaquat National Hospital and Medical College |
| record_format | Article |
| series | Journal of Liaquat National Hospital |
| spelling | doaj-art-967a41c8f1024fd2a8abe97e01234b872025-08-20T02:00:46ZengLiaquat National Hospital and Medical CollegeJournal of Liaquat National Hospital2959-18052960-29632024-10-0122899710.37184/jlnh.2959-1805.2.11Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast CancerSaba Munir0Yasir Nawaz1Fouzia Tanvir2Maria Akram3Muhammad Luqman4Javaria Zafar5Muhammad Zaman6Department of Zoology, Faculty of Life Sciences, University of Okara, Okara, PakistanDepartment of Zoology, Faculty of Life Sciences, University of Okara, Okara, PakistanDepartment of Zoology, Faculty of Life Sciences, University of Okara, Okara, PakistanDepartment of Zoology, Faculty of Life Sciences, University of Okara, Okara, PakistanDepartment of Zoology, Faculty of Life Sciences, University of Okara, Okara, PakistanDepartment of Zoology, Faculty of Life Sciences, University of Okara, Okara, PakistanDepartment of Zoology, Faculty of Life Sciences, University of Okara, Okara, PakistanBreast 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.https://journals.lnh.edu.pk/jlnh/pdf/feda4db7-349d-4032-929c-84ced573f014.pdfbreast cancersingle nucleotide polymorphismsmutationsbrca1brca2dna |
| spellingShingle | Saba Munir Yasir Nawaz Fouzia Tanvir Maria Akram Muhammad Luqman Javaria Zafar Muhammad Zaman Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer Journal of Liaquat National Hospital breast cancer single nucleotide polymorphisms mutations brca1 brca2 dna |
| title | Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer |
| title_full | Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer |
| title_fullStr | Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer |
| title_full_unstemmed | Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer |
| title_short | Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer |
| title_sort | role of single nucleotide polymorphisms in brca1 and brca2 genes relative to previous studies in pakistan in the prognosis of breast cancer |
| topic | breast cancer single nucleotide polymorphisms mutations brca1 brca2 dna |
| url | https://journals.lnh.edu.pk/jlnh/pdf/feda4db7-349d-4032-929c-84ced573f014.pdf |
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