Analysis of BRCA1 Gene Character in Families with a History of Breast Cancer
Analisis Karakter Gen BRCA1 pada Keluarga dengan Riwayat Kanker Payudara
DOI:
https://doi.org/10.21070/ups.8456Keywords:
Breast cancer, BRCA1 gene, PCR, SequencingAbstract
Breast cancer is a common type of cancer found in women worldwide. The purpose of this study was to determine the inheritance of the BRCA1 gene in families with a history of breast cancer. This study used a descriptive correlative research design. The sample used was a family sample suspected of having a hereditary history of breast cancer as evidenced by interviews and genealogical analysis. Based on the results of the BRCA1 gene analysis study on three samples from three families, it can be concluded that two family members from family 1 and one family member from family 2 were identified as having BRCA1 gene mutations. The mutations occurred at the points del2805A, del3280C, and C2612T.
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M. Puspa Ningrum and R. Sri Ratna Rahayu, “Indonesian Journal of Public Health and Nutrition Determinan Kejadian Kanker Payudara pada Wanita Usia Subur (15-49 Tahun) Article Info,” 2021. [Online]. Available: http://journal.unnes.ac.id/sju/index.php/IJPHN
“Hubungan Faktor Keturunan Dengan Kanker,” Jurnal Ilmiah Kesehatan Sandi Husada, vol. 9, no. 2, pp. 702–707, 2020.
Hardianto, Ketut Krisna, Astuti Puji Siswi, and Susanti, Profil Statistik Kesehatan 2023, vol. 7. 2023.
Hero Khairunnisa Syifa, C. Author, P. Studi Pendidikan Dokter, F. Kedokteran, and U. Lampung, “Faktor Risiko Kanker Payudara,” Jurnal Medika Utama, vol. 03, no. 01, Oct. 2021, [Online]. Available: http://jurnalmedikahutama.com
Ketut Suparna and Kartika Karuni, “Kanker Payudara: Diagnostik, Faktor Risiko, dan Stadium Payudara: Diagnostik, Faktor Risiko,dan Stadium,” Ganesha Medicina Journal, vol. 2, no. 1, pp. 42–48, 2022.
N. Asiah, D. Arruum, E. Aizar, P. Studi, S. Keperawatan, and F. Keperawatan, “Pengetahuan Wanita Tentang Kanker Payudara Women Knowledge About Breast Cancer,” 2019.
I. Wayan et al., “Manajemen Kanker Payudara dengan Mutasi Gen BRCA,” 2013.
X. Fu, W. Tan, Q. Song, H. Pei, and J. Li, “BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies,” Mar. 01, 2022, Frontiers Media S.A. doi: 10.3389/fcell.2022.813457.
L. Semmler, C. Reiter-Brennan, and A. Klein, “BRCA1 and breast cancer: A review of the underlying mechanisms resulting in the tissue-specific tumorigenesis in mutation carriers,” J Breast Cancer, vol. 22, no. 1, pp. 1–14, Mar. 2019, doi: 10.4048/jbc.2019.22.e6.
A. Antoniou et al., “Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies,” Am J Hum Genet, vol. 72, no. 5, pp. 1117–1130, May 2020, doi: 10.1086/375033.
M. Abu-Helalah et al., “BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan,” Sci Rep, vol. 10, no. 1, Dec. 2020, doi: 10.1038/s41598-020-74250-2.
F. Cherbal, N. Salhi, R. Bakour, S. Adane, K. Boualga, and P. Maillet, “BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families,” Dis Markers, vol. 32, pp. 343–353, 2012, doi: 10.3233/DMA-2012-0893.
R. L. Bennett, K. S. French, R. G. Resta, and D. L. Doyle, “standardized human pedigree nomenclature: Update and assessment of the recommendations of the National Society of Genetic Counselors,” Oct. 2008. doi: 10.1007/s10897-008-9169-9.
A. S. Algebaly, R. S. Suliman, and W. S. Al-Qahtani, “Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer,” Clinical and Translational Oncology, vol. 23, no. 1, pp. 74–81, Jan. 2021, doi: 10.1007/s12094-020-02385-9.
R. L. Bennett, K. S. French, R. G. Resta, and D. L. Doyle, “standardized human pedigree nomenclature: Update and assessment of the recommendations of the National Society of Genetic Counselors,” Oct. 2008. doi: 10.1007/s10897-008-9169-9.
N. Mavaddat et al., “Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE,” J Natl Cancer Inst, vol. 105, no. 11, pp. 812–822, Jun. 2013, doi: 10.1093/jnci/djt095.
A. Bouras et al., “Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort,” Cancers (Basel), vol. 15, no. 13, Jul. 2023, doi: 10.3390/cancers15133420.
M. J. Wolyniak, L. T. Bemis, and A. J. Prunuske, “Improving medical students’ knowledge of genetic disease: A review of current and emerging pedagogical practices,” 2015, Dove Medical Press Ltd. doi: 10.2147/AMEP.S73644.
E. M. Rosen and M. J. Pishvaian, “Send Orders for Reprints to reprints@benthamscience.net Targeting the BRCA1/2 Tumor Suppressors,” 2014.
K. B. Kuchenbaecker et al., “Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers,” JAMA, vol. 317, no. 23, pp. 2402–2416, Jun. 2017, doi: 10.1001/jama.2017.7112.
G. A. Colditz and K. Bohlke, “Priorities for the primary prevention of breast cancer,” CA Cancer J Clin, vol. 64, no. 3, pp. 186–194, May 2014, doi: 10.3322/caac.21225.
R. Roy, J. Chun, and S. N. Powell, “BRCA1 and BRCA2: Different roles in a common pathway of genome protection,” Jan. 2012. doi: 10.1038/nrc3181.
S. A. Narod, “BRCA mutations in the management of breast cancer: The state of the art,” Dec. 2010. doi: 10.1038/nrclinonc.2010.166.
A. R. Venkitaraman, “Review Cancer Susceptibility and the Functions of BRCA1 and BRCA2 channels tumor evolution down particular routes. Evolv-ing evidence concerning the participation of BRCA pro-teins in other cellular processes will also be analyzed, emphasizing the many significant challenges in our cur-rent understanding of cancer predisposition induced by,” 2002.
S. Chen and G. Parmigiani, “Meta-Analysis of BRCA1 and BRCA2 Penetrance.” [Online]. Available: http://seer.cancer.gov/canques/mortality.html
Y. Miki et al., “RESEARCH ARTICLES A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1.” [Online]. Available: http://science.sciencemag.org/
Y. Wang et al., “Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report,” Oncol Lett, vol. 16, no. 3, pp. 3913–3916, Sep. 2018, doi: 10.3892/ol.2018.9139.
J. N. Weitzel et al., “Dicetak ulang) JAMA,” 2007. [Online]. Available: http://jama.jamanetwork.com/
“Gangguan_Siklus_Sel_dan_Mutasi_Gen_pada”.
S. Dina Zakia et al., “Hubungan Riwayat Keluarga Dengan Kejadian Kanker Payudara Usia Muda di RSUD ULIN BANJARMASIN.”
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