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BRCA1/2 突变阳性家族中无携带者的乳腺癌和卵巢癌筛查:来自法国和魁北克队列的 2 年随访。

Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec.

机构信息

Faculté de Pharmacie, Université Laval, Québec, QC, Canada.

出版信息

Eur J Hum Genet. 2011 May;19(5):494-9. doi: 10.1038/ejhg.2010.227. Epub 2011 Jan 19.

Abstract

We described and compared breast and ovarian screening practices in the 2-year period following test result disclosure in female non-carriers from BRCA1/2 mutation-positive families living in two countries, France and Quebec, Canada, which provide universal health care. Four hundred and two (France n=293; Quebec n=109) unaffected female non-carriers from BRCA-proven mutation families provided information about the uptake of mammography, clinical breast examination, breast self-examination, and ovarian ultrasounds using self-administered questionnaires. The frequency of screening practices between study cohorts were compared using logistic regression. Annual mammography was conducted in 23 and 43% of French and Quebecer women participants <50 years of age, respectively (adjusted odds ratio (aOR)=2.72; 95% confidence interval (CI), 1.08-6.81). In women ≥ 50 years of age, mammography was conducted in 49 and 65% of French and Quebecer participants (aOR=1.77; 95% CI, 0.07-4.51). Overall, 33% of French women and 39% of Quebecer women underwent at least one ovarian ultrasound during the 2-year period following BRCA1/2 test result with no significant difference between cohorts of women < 50 years of age. Among older women, Quebecers reported more frequently than French women that they had undergone ultrasound once (aOR=3.00; 95% CI, 1.02-8.83). The frequency of cancer screening practices for female non-carriers from BRCA1/2 mutation-positive families in both France and Quebec exceeded those recommended for similarly aged women in the general population. Our findings highlight the need for clearcut recommendations on the follow-up of women from BRCA1/2 families who are not themselves carriers of a BRCA1/2 mutation.

摘要

我们描述并比较了 BRCA1/2 突变阳性家族中女性非携带者在接受检测结果披露后的两年内进行乳房和卵巢筛查的情况,这些女性非携带者生活在两个提供全民医疗保健的国家,法国和加拿大魁北克省。402 名(法国 293 名;魁北克 109 名)BRCA 证实突变家族的无影响女性非携带者通过自我管理问卷提供了关于乳房 X 光检查、临床乳房检查、乳房自我检查和卵巢超声检查的信息。使用逻辑回归比较研究队列之间的筛查实践频率。分别有 23%和 43%的法国和魁北克参与者年龄<50 岁的女性每年进行乳房 X 光检查(调整后的优势比(aOR)=2.72;95%置信区间(CI),1.08-6.81)。在年龄≥50 岁的女性中,分别有 49%和 65%的法国和魁北克参与者进行了乳房 X 光检查(aOR=1.77;95%CI,0.07-4.51)。总的来说,33%的法国女性和 39%的魁北克女性在接受 BRCA1/2 检测结果后的两年内至少进行了一次卵巢超声检查,两个年龄<50 岁的女性队列之间没有显著差异。在年龄较大的女性中,魁北克女性比法国女性更频繁地报告接受过一次超声检查(aOR=3.00;95%CI,1.02-8.83)。法国和魁北克的 BRCA1/2 突变阳性家族中女性非携带者的癌症筛查实践频率均高于一般人群中同年龄女性的推荐频率。我们的研究结果强调了需要明确建议来跟进那些非 BRCA1/2 突变携带者的 BRCA1/2 家族中的女性。

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