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在基于人群的乳腺癌筛查中识别遗传性乳腺癌-卵巢癌高危女性。

Identification of women at risk of hereditary breast-ovarian cancer among participants in a population-based breast cancer screening.

机构信息

Unit of Clinical Epidemiology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.

Department of Prevention, ASL3-Liguria, Genoa, Italy.

出版信息

Fam Cancer. 2022 Jul;21(3):309-318. doi: 10.1007/s10689-021-00281-x. Epub 2021 Oct 20.

DOI:10.1007/s10689-021-00281-x
PMID:34669096
Abstract

Women attending mammography screening may benefit from family history (FH) assessment for the identification of Hereditary Breast Ovarian Cancer (HBOC). Few studies explored the efficacy of tailored educational interventions in driving the attention on FH-associated risk among these women. To compare the efficacy of two educational tools in increasing attention towards FH, 6.802 women with a negative mammography were randomized to receive a note on FH of breast/ovarian cancer (letter A, n = 3.402) or a note with details on possible implication of FH patterns (letter B, n = 3.200). Upon women's request, a brief questionnaire was administered on phone at the Screening Unit (S.U.) to select those eligible for an in-depth FH evaluation at the Genetic Unit (G.U.). Each affected relative was scored 1-3 according to type of cancer, age at diagnosis, gender, position in the family tree. In all, 401 women contacted the S.U.: 244 (6.6%) in group A and 177 (5.2%) in group B (adjOR 1.27; 95%CI 1.03-1.56). FH scored ≥ 3 for 164 women: 177 (47.5%) in group B and 224 (35.7%) in group A, (adjOR 1.59, 95%CI 1.06-2.38). The G.U. traced and interviewed 148 women, 65 (43.9%) were offered an in-person consultation: 38 attended and 30 were eligible for testing. A test was performed for 24 women: no BRCA pathogenic variant was found. Among mammographic screening attendees, educational material with a simple description of FH may improve self-referral of women deserving an in-depth evaluation for HBOC identification. Additional educational efforts are needed to enhance the efficiency of the intervention.

摘要

参加乳房 X 光筛查的女性可能会从家族史(FH)评估中受益,以确定遗传性乳腺癌-卵巢癌(HBOC)。很少有研究探讨针对这些女性的 FH 相关风险的针对性教育干预措施的效果。为了比较两种教育工具在提高对 FH 的关注度方面的效果,将 6802 名乳房 X 光检查结果为阴性的女性随机分为两组,一组收到关于乳腺癌/卵巢癌 FH 的说明(信件 A,n=3402),另一组收到关于 FH 模式可能影响的说明(信件 B,n=3200)。根据女性的要求,在筛查单位(SU)通过电话进行了简短的问卷调查,以选择有资格在遗传单位(GU)进行深入 FH 评估的女性。根据癌症类型、诊断时的年龄、性别、家族树中的位置,每个受影响的亲属的评分范围为 1-3。共有 401 名女性联系了 SU:信件 A 组 244 名(6.6%),信件 B 组 177 名(5.2%)(调整比值比 1.27;95%CI 1.03-1.56)。FH 评分≥3 的女性有 164 名:信件 B 组 177 名(47.5%),信件 A 组 224 名(35.7%)(调整比值比 1.59,95%CI 1.06-2.38)。GU 追踪并采访了 148 名女性,其中 65 名(43.9%)被提供了面对面咨询:38 人参加,30 人符合检测条件。对 24 名女性进行了检测:未发现 BRCA 致病性变异。在乳房 X 光筛查的参与者中,FH 的简单描述可能会提高需要深入评估以确定 HBOC 身份的女性的自我推荐率。需要进一步的教育努力来提高干预的效率。

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