BRCA1 and BRCA2 are genes responsible for creating tumor suppressor proteins. These proteins help repair damaged DNA, so the two BRCA genes play a role in ensuring the stability of genetic material.
Currently, there are nearly 20 reported genes with a lot of evidence related to hereditary breast cancer, of which BRCA 1 and 2 genes account for more than 50% of cases and are known to be the two most important genes in cancer. genetic breast.
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BRCA1 and BRCA2 are genes responsible for creating tumor suppressor proteins. These proteins help repair damaged DNA, so the two BRCA genes play a role in ensuring the stability of genetic material.
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When either of these genes is mutated, damaged DNA may not be repaired properly, cells may grow abnormally, increasing the risk of cancer cells forming.
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The two BRCA genes are two large genes, there have been thousands of mutations reported in these two genes. The proportion of people carrying mutations in the BRCA1 and BRCA2 genes is 1/300 and 1/800, respectively.
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Reference:
1. Balmaña J., et al (2009). BRCA in breast cancer: ESMO Clinical Recommendations. Annals of Oncology, 2009;20(4): iv19–iv20.
2. Golan T., et al (2019). Maintenance Olaparib for Germline BRCA-Mutated Metastatic Pancreatic Cancer. N Engl J Med, 381:317-327.
3. Markowski M and Antonarkis (2018). Germline genetic testing in prostate cancer – further enrichment in variant histologies? Oncoscience, 5(3-4): 62-64.
4. Ngeow J. and Charis E. (2016). Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet. Npj Genomic medicine, doi:10.1038/npjgenmed.2015.6.
5. https://ghr.nlm.nih.gov/.../mutationsanddiso.../genemutation (last accessed October 2018)
6. https://www.youtube.com/watch?v=2q-EPxSCo0g
7. Wong, E., Shekar, S., Met-Domestici, M. et al. Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore. npj Genomic Med 1, 15003 (2016).
