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首页> 外文期刊>Indian Journal of Medical and Paediatric Oncology >Hereditary breast and ovarian cancer syndrome (BRCA) gene: Concept, pathways, therapeutics, and future
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Hereditary breast and ovarian cancer syndrome (BRCA) gene: Concept, pathways, therapeutics, and future

机译:遗传性乳腺癌和卵巢癌综合征(BRCA)基因:概念,途径,治疗学和未来

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摘要

Hereditary breast and ovarian cancers are most commonly caused by mutations in BRCA1 and 2 genes. These are autosomal dominant mutations with high penetrance into subsequent generations. Affected individuals have deficiency in DNA repair mechanisms such as double strand DNA breaks (DSB) and non-homologous end joining (NHEJ). These tumors are peculiar due to early age of onset, typical histology such as triple negative breast cancers and high grade serous ovarian cancers and exquisite sensitivity to platinum analogues. These patients usually have better survival as compared to their wild type counterparts. Incidence of these mutations is rising due to better awareness about them amongst oncologists and patient population. Various genomic assays are available to detect germline and somatic BRCA mutations. Newer therapeutic frontiers like PARP inhibition have opened up due to better understanding of various mutations and their impact on subsequent pathways. Further studies are required to explore possibility of direct BRCA inhibition which may be useful in treatment of other solid organ cancers as well. This review focuses on understanding the pathophysiology of BRCA mutations, various pathways associated with the same, chemosensitivity patterns amongst affected cancer cells, targeted therapeutic opportunities and potential future developments in this field. We collected data from various published electronic records on google and have no conflicts of interest to be declared.
机译:遗传性乳房和卵巢癌最常是由BRCA1和2基因的突变引起的。这些是常染色体显性突变,渗透到后续几代。受影响的个体在DNA修复机制中具有缺乏缺乏,例如双链DNA断裂(DSB)和非同源终端连接(NHEJ)。由于发病的早期,这些肿瘤是特殊的,典型的组织学,如三重阴性乳腺癌和高级浆液卵巢癌和对铂类似物的精致敏感性。与其野生型同行相比,这些患者通常具有更好的存活。这些突变的发病率正在上升,因为在肿瘤学家和患者人口中更好地了解它们。可以检测各种基因组测定以检测种系和体细胞BRCA突变。由于对各种突变的了解及其对随后的途径的影响,更新的疗法抑制如PARP抑制的疗效已经打开。需要进一步的研究来探索直接BRCA抑制的可能性,这也可用于治疗其他固体器官癌症。本综述重点是理解BRCA突变的病理生理学,在受影响的癌细胞中,有针对性的治疗机会和该领域的潜在未来发展相关的相同的化学敏感模式。我们收集了谷歌上各种公布的电子记录的数据,并没有宣布利益冲突。

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