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本文引用的文献

1
"BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations.卵巢癌中的“BRCA样”综合征：一项病例对照研究，描述与BRCA1和BRCA2突变相关的上皮性卵巢癌患者的临床特征和预后。
J Clin Oncol. 2008 Dec 1;26(34):5530-6. doi: 10.1200/JCO.2008.16.1703. Epub 2008 Oct 27.
2
Sporadic epithelial ovarian cancer: clinical relevance of BRCA1 inhibition in the DNA damage and repair pathway.散发性上皮性卵巢癌：BRCA1抑制在DNA损伤与修复途径中的临床相关性
J Clin Oncol. 2008 Jul 1;26(19):3259-67. doi: 10.1200/JCO.2007.11.3902.
3
Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family.基于临床癌症遗传学服务机构中基因检测的BRCA1和BRCA2的外显率估计：所引用的乳腺癌/卵巢癌风险应反映家族中的癌症负担。
BMC Cancer. 2008 May 30;8:155. doi: 10.1186/1471-2407-8-155.
4
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.在西班牙前往遗传咨询机构的BRCA1和BRCA2基因发生突变的携带者患乳腺癌和卵巢癌的平均累积风险。
Clin Cancer Res. 2008 May 1;14(9):2861-9. doi: 10.1158/1078-0432.CCR-07-4436.
5
Promoter hypermethylation of FANCF and outcome in advanced ovarian cancer.FANCF基因启动子高甲基化与晚期卵巢癌的预后
Br J Cancer. 2008 Apr 22;98(8):1452-6. doi: 10.1038/sj.bjc.6604325. Epub 2008 Apr 15.
6
Promoter hypermethylation of the PALB2 susceptibility gene in inherited and sporadic breast and ovarian cancer.遗传性和散发性乳腺癌及卵巢癌中PALB2易感基因的启动子高甲基化
Cancer Res. 2008 Feb 15;68(4):998-1002. doi: 10.1158/0008-5472.CAN-07-2418.
7
Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers.继发性突变作为BRCA2突变癌症中顺铂耐药的一种机制。
Nature. 2008 Feb 28;451(7182):1116-20. doi: 10.1038/nature06633. Epub 2008 Feb 10.
8
Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities.伴有遗传性和表观遗传性BRCA1缺失的卵巢癌具有独特的分子异常。
BMC Cancer. 2008 Jan 22;8:17. doi: 10.1186/1471-2407-8-17.
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Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.利用表达数据和CGEMS全基因组乳腺癌关联研究来鉴定可能改变BRCA1/2突变携带者风险的基因。
Breast Cancer Res Treat. 2008 Nov;112(2):229-36. doi: 10.1007/s10549-007-9848-5. Epub 2007 Dec 20.
10
BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemotherapy.BRCA1信使核糖核酸表达水平可预测卵巢癌化疗后的总生存期。
Clin Cancer Res. 2007 Dec 15;13(24):7413-20. doi: 10.1158/1078-0432.CCR-07-1083.

遗传性上皮性卵巢癌的分子特征及其对该疾病生物学特性的影响。

Molecular profiles of hereditary epithelial ovarian cancers and their implications for the biology of this disease.

作者信息

Jazaeri Amir A

机构信息

W. Norman Thornton Division of Gynecologic Oncology, Department of Obstetrics & Gynecology, University of Virginia Health System, Box 800712, Charlottesville, VA 22908, USA.

出版信息

Mol Oncol. 2009 Apr;3(2):151-6. doi: 10.1016/j.molonc.2009.01.001. Epub 2009 Feb 7.

DOI:10.1016/j.molonc.2009.01.001
PMID:19383376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5527878/
Abstract

BRCA1 and BRCA2 germline mutations account for the majority of hereditary ovarian cancers and comprise 10% of total cases. Ovarian cancers arising from these mutations exhibit both overlapping and distinct clinical and molecular features. The expression profiles of sporadic ovarian cancers show similarities to those of BRCA1 and BRCA2-related tumors suggesting that BRCA-related pathways may be involved in their development as well. The purpose of this review is to consider the available data on ovarian cancers in the context of other investigations of BRCA-related transcriptional alterations, and highlight areas for future research.

摘要

BRCA1和BRCA2种系突变占遗传性卵巢癌的大多数，占所有病例的10%。由这些突变引起的卵巢癌表现出重叠和独特的临床及分子特征。散发性卵巢癌的表达谱与BRCA1和BRCA2相关肿瘤的表达谱相似，这表明BRCA相关通路可能也参与了它们的发生发展。本综述的目的是在BRCA相关转录改变的其他研究背景下，考量关于卵巢癌的现有数据，并突出未来研究的领域。