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上皮性卵巢癌中的BRCA基因

The BRCA Gene in Epithelial Ovarian Cancer.

作者信息

Sánchez-Lorenzo Luisa, Salas-Benito Diego, Villamayor Julia, Patiño-García Ana, González-Martín Antonio

机构信息

Department of Medical Oncology, Clínica Universidad de Navarra, 28027 Madrid, Spain.

Solid Tumor Program (CIMA), Clínica Universidad de Navarra, 31008 Pamplona, Spain.

出版信息

Cancers (Basel). 2022 Feb 27;14(5):1235. doi: 10.3390/cancers14051235.

Abstract

Epithelial ovarian cancer (EOC) is still the most lethal gynecological cancer. Germline alterations in breast cancer 1 (gBRCA1) and breast cancer 2 (gBRCA2) genes have been identified in up to 18% of women diagnosed with EOC, and somatic mutations are found in an additional 7%. Testing of BRCA at the primary diagnosis of patients with EOC is recommended due to the implications in the genomic counseling of the patients and their families, as well as for the therapeutic implications. Indeed, the introduction of poly-(ADP ribose) polymerase inhibitors (PARPis) has changed the natural history of patients harboring a mutation in BRCA, and has resulted in a new era in the treatment of patients with ovarian cancer harboring a BRCA mutation.

摘要

上皮性卵巢癌(EOC)仍然是最致命的妇科癌症。在高达18%被诊断为EOC的女性中发现了乳腺癌1(gBRCA1)和乳腺癌2(gBRCA2)基因的种系改变,另外还有7%发现了体细胞突变。由于对患者及其家属的基因组咨询以及治疗方面的影响,建议在EOC患者初诊时进行BRCA检测。事实上,聚(ADP核糖)聚合酶抑制剂(PARPis)的引入改变了携带BRCA突变患者的自然病程,并开创了携带BRCA突变的卵巢癌患者治疗的新时代。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b29b/8909050/a6c0a0b33526/cancers-14-01235-g001.jpg

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