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对乳腺癌BRCA1和BRCA2突变携带者进行筛查。

Screening BRCA1 and BRCA2 Mutation Carriers for Breast Cancer.

作者信息

Warner Ellen

机构信息

Sunnybrook Odette Cancer Centre, University of Toronto, Toronto, ON M4N 3M5, Canada.

出版信息

Cancers (Basel). 2018 Nov 30;10(12):477. doi: 10.3390/cancers10120477.

DOI:10.3390/cancers10120477
PMID:30513626
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6315500/
Abstract

Women with BRCA mutations, who choose to decline or defer risk-reducing mastectomy, require a highly sensitive breast screening regimen they can begin by age 25 or 30. Meta-analysis of multiple observational studies, in which both mammography and magnetic resonance imaging (MRI) were performed annually, demonstrated a combined sensitivity of 94% for MRI plus mammography compared to 39% for mammography alone. There was negligible benefit from adding screening ultrasound or clinical breast examination to the other two modalities. The great majority of cancers detected were non-invasive or stage I. While the addition of MRI to mammography lowered the specificity from 95% to 77%, the specificity improved significantly after the first round of screening. The median follow-up of women with screen-detected breast cancer in the above observational studies now exceeds 10 years, and the long-term breast cancer-free survival in most of these studies is 90% to 95%. However, ongoing follow-up of these study patients, as well of women screened and treated more recently, is necessary. Advances in imaging technology will make highly sensitive screening accessible to a greater number of high-risk women.

摘要

携带BRCA基因突变且选择拒绝或推迟降低风险的乳房切除术的女性,需要一种高度敏感的乳房筛查方案,她们可以在25岁或30岁时开始。对多项观察性研究的荟萃分析表明,每年同时进行乳房X线摄影和磁共振成像(MRI),MRI联合乳房X线摄影的综合敏感度为94%,而单独乳房X线摄影的敏感度为39%。在另外两种检查方式中增加筛查超声或临床乳房检查,获益微乎其微。检测出的绝大多数癌症为非侵袭性或I期。虽然在乳房X线摄影中增加MRI会使特异性从95%降至77%,但第一轮筛查后特异性显著提高。上述观察性研究中经筛查发现乳腺癌的女性的中位随访时间现已超过10年,且大多数此类研究中的长期无乳腺癌生存率为90%至95%。然而,有必要对这些研究患者以及近期接受筛查和治疗的女性进行持续随访检查。成像技术的进步将使更多高危女性能够进行高度敏感的筛查。

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本文引用的文献

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