乳腺癌女性中胚系致病性 BRCA 变异的前驱症状意识及相关结局。
Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer.
机构信息
Breast Surgery Unit, Department of Surgery, Shaare Zedek Medical Center, Jerusalem, Israel.
Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
出版信息
JAMA Oncol. 2020 Sep 1;6(9):1460-1463. doi: 10.1001/jamaoncol.2020.2059.
Abstract
This retrospective cohort study of women with breast cancer evaluates the association of presymptomatic awareness of germline pathogenic variants and treatment outcomes.
摘要
本研究回顾性地纳入了患有乳腺癌的女性患者，旨在评估种系致病性变异的症状前知晓与治疗结局之间的相关性。
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本文引用的文献
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NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.NCCN 指南解读：遗传/家族性高风险评估：乳腺、卵巢和胰腺，第 1.2020 版。
J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017.
2
Broadening Criteria for BRCA1/2 Evaluation: Placing the USPSTF Recommendation in Context.扩大BRCA1/2评估标准：解读美国预防医学工作组的建议
JAMA. 2019 Aug 20;322(7):619-621. doi: 10.1001/jama.2019.9688.
3
Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.BRCA1 和 BRCA2 基因突变携带者行双侧降低风险乳房切除术的生存情况。
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International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation.具有 BRCA1 或 BRCA2 突变的女性中采用癌症风险降低策略的国际趋势。
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BMC Womens Health. 2014 Dec 12;14:150. doi: 10.1186/s12905-014-0150-5.
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Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.基于人群的BRCA1和BRCA2相关乳腺癌和卵巢癌风险筛查。
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