BRCA1/2 germline testing in non-mucinous epithelial ovarian carcinoma: changing international practice and implications for service provision.
作者信息
Coakley Maria, Cleary Vicki, Power Nicholas, O'Reilly Seamus
机构信息
Department of Medical Oncology, Cork University Hospital, Cork, Ireland.
出版信息
Eur J Hum Genet. 2017 Feb;25(2):167-168. doi: 10.1038/ejhg.2016.138. Epub 2016 Oct 19.
Abstract
摘要
相似文献
1
BRCA1/2 germline testing in non-mucinous epithelial ovarian carcinoma: changing international practice and implications for service provision.非黏液性上皮性卵巢癌中的BRCA1/2种系检测：国际实践的变化及对服务提供的影响
Eur J Hum Genet. 2017 Feb;25(2):167-168. doi: 10.1038/ejhg.2016.138. Epub 2016 Oct 19.
2
Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review.对每个上皮性卵巢癌患者进行胚系 BRCA1/2 突变检测的指征：系统评价。
Eur J Cancer. 2016 Jul;61:137-45. doi: 10.1016/j.ejca.2016.03.009. Epub 2016 May 19.
3
New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.卵巢癌女性BRCA1/BRCA2检测的新范式：上皮性卵巢癌基因检测（GTEOC）研究结果
J Med Genet. 2016 Oct;53(10):655-61. doi: 10.1136/jmedgenet-2016-103902. Epub 2016 May 12.
4
A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer.英国卵巢癌女性中胚系BRCA1和BRCA2检测的成本效益评估。
Value Health. 2017 Apr;20(4):567-576. doi: 10.1016/j.jval.2017.01.004. Epub 2017 Mar 3.
5
Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow.基于新一代测序的 BRCA1/BRCA2 种系拷贝数变异的检测：一步法诊断工作流程的验证。
J Mol Diagn. 2017 Nov;19(6):809-816. doi: 10.1016/j.jmoldx.2017.07.003. Epub 2017 Aug 17.
6
Uptake of testing for germline mutations in patients with non-mucinous epithelial ovarian cancers in Western Australia: a comparison of different genetic counseling methods.西澳大利亚州非黏液性上皮性卵巢癌患者种系突变检测的应用：不同遗传咨询方法的比较。
Int J Gynecol Cancer. 2019 Jul;29(6):1038-1042. doi: 10.1136/ijgc-2019-000389. Epub 2019 May 17.
7
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.巴西上皮性卵巢癌患者中BRCA1和BRCA2的种系突变
BMC Cancer. 2016 Dec 3;16(1):934. doi: 10.1186/s12885-016-2966-x.
8
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England.在英格兰西北部将胚系 BRCA1/2 检测纳入非黏液性上皮性卵巢癌的常规检测。
Eur J Hum Genet. 2020 Nov;28(11):1541-1547. doi: 10.1038/s41431-020-0692-y. Epub 2020 Jul 10.
9
Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience.对卵巢癌患者进行常规种系 BRCA1 和 BRCA2 检测：苏格兰真实经验分析。
BJOG. 2018 Oct;125(11):1451-1458. doi: 10.1111/1471-0528.15171. Epub 2018 May 10.
10
Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania.立陶宛BRCA1和BRCA2的综合突变谱
Cancer Genet. 2014 May;207(5):195-205. doi: 10.1016/j.cancergen.2014.05.002. Epub 2014 May 10.
引用本文的文献
1
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland.一项试点研究，旨在调查在爱尔兰三个三级癌症中心对患有乳腺癌和/或卵巢癌的高危患者进行种系BRCA1和BRCA2检测纳入主流的可行性。
Fam Cancer. 2023 Apr;22(2):135-149. doi: 10.1007/s10689-022-00313-0. Epub 2022 Aug 27.
2
Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service.预约等待时间对临床癌症遗传学服务出勤率的影响。
J Genet Couns. 2018 Dec;27(6):1473-1481. doi: 10.1007/s10897-018-0259-z. Epub 2018 May 24.
本文引用的文献
1
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.在未接受过遗传咨询的新诊断乳腺癌和卵巢癌患者中进行BRCA1/2检测：DNA-BONus研究
Eur J Hum Genet. 2016 Jun;24(6):881-8. doi: 10.1038/ejhg.2015.196. Epub 2015 Sep 9.
2
AGO Austria recommendations for genetic testing of patients with ovarian cancer.奥地利AGO关于卵巢癌患者基因检测的建议。
Wien Klin Wochenschr. 2015 Aug;127(15-16):652-4. doi: 10.1007/s00508-015-0814-7.
3
Identification of genetic counseling service delivery models in practice: a report from the NSGC Service Delivery Model Task Force.实践中遗传咨询服务提供模式的识别：NSGC服务提供模式特别工作组的报告
J Genet Couns. 2013 Aug;22(4):411-21. doi: 10.1007/s10897-013-9588-0. Epub 2013 Apr 25.
4
BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.BRCA 基因突变频率及卵巢癌 BRCA 基因突变阳性患者的治疗反应模式：来自澳大利亚卵巢癌研究组的报告。
J Clin Oncol. 2012 Jul 20;30(21):2654-63. doi: 10.1200/JCO.2011.39.8545. Epub 2012 Jun 18.
5
Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers.对携带BRCA突变的肿瘤中聚（ADP - 核糖）聚合酶的抑制作用。
N Engl J Med. 2009 Jul 9;361(2):123-34. doi: 10.1056/NEJMoa0900212. Epub 2009 Jun 24.
6
Selecting a BRCA risk assessment model for use in a familial cancer clinic.选择用于家族性癌症诊所的BRCA风险评估模型。
BMC Med Genet. 2008 Dec 22;9:116. doi: 10.1186/1471-2350-9-116.
7
BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.BRCA1和BRCA2基因突变在卵巢癌病例中占很大比例。
Cancer. 2005 Dec 15;104(12):2807-16. doi: 10.1002/cncr.21536.
Zotero 插件