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关于携带 BRCA1/2 或 PALB2 致病性变异的女性亲属的乳腺癌遗传和非遗传风险因素的信息需求。

Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant.

机构信息

Institut Curie, Supportive Care Department, Psycho-oncology Unit, PSL University, 26 rue d'Ulm, Paris, 75005 Paris Cedex 05, France; University of Paris, 71 Avenue Edouard Vaillant, Boulogne-Billancourt, 92774, France.

Institut Curie, Cancer Genetic Clinic, PSL University, 26 rue d'Ulm, 75005 Paris Cedex 05, France.

出版信息

Breast. 2021 Dec;60:38-44. doi: 10.1016/j.breast.2021.08.011. Epub 2021 Aug 23.

DOI:10.1016/j.breast.2021.08.011
PMID:34455229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8403756/
Abstract

OBJECTIVES

Comprehensive breast cancer (BC) risk models integrating effects of genetic (GRF) and non-genetic risk factors (NGRF) may refine BC prevention recommendations. We explored the perceived information received on BC risk factors, and related characteristics, in female relatives of women with a BRCA1/2 or PALB2 pathogenic variant, undergoing BC risk assessment using the CanRisk© prediction tool.

METHODS

Of 200 consecutive cancer-free women approached after the initial genetic consultation, 161 (80.5%) filled in questionnaires on their perception of information received and wished further information on BC risk factors (e.g., being a carrier of a moderate risk altered gene, personal genetic profile, lifestyles). Multilevel multivariate linear models were performed accounting for the clinician who met the counselee and exploring the effect of counselees' socio-demographic, familial and psychological characteristics on the perceived extent of information received.

RESULTS

Perceived no/little information received and wish for further information were more frequent for NGRF (>50%) than for GRF, especially high-risk genes (<20%). Perceived amount of information received and desire for further information were inversely correlated (p=<0.0001). Higher education level related to lower perceived levels of information received on GRF. Younger counselees' age (β = 0.13, p = 0.02) and less frequent engagement coping (e.g., inclination to solicit information) (β = 0.24, p = 0.02) related to lower perceived information received about NGRF. Other assessed counselees' features were not found to be associated to GRF and NGRF information perception.

CONCLUSIONS

Awareness of counselees' perceived lack of information on BC risk factors indicates a need to enhance evidence-based information on BC NGRF especially.

摘要

目的

综合考虑遗传(GRF)和非遗传风险因素(NGRF)对乳腺癌(BC)风险的影响的全面 BC 风险模型可能会完善 BC 预防建议。我们探讨了接受 BRCA1/2 或 PALB2 致病性变异的女性的女性亲属在使用 CanRisk©预测工具进行 BC 风险评估时,对 BC 风险因素及其相关特征的感知信息。

方法

在最初的遗传咨询后,对 200 名连续的无癌症女性进行了调查,其中 161 名(80.5%)填写了关于其对所接受信息的感知以及对 BC 风险因素(例如,携带中度风险改变基因、个人基因谱、生活方式)的进一步信息的问卷。采用多水平多变量线性模型,考虑到与被咨询者会面的临床医生,并探讨了被咨询者的社会人口统计学、家族和心理特征对感知信息接收程度的影响。

结果

与 GRF 相比,NGRF(>50%)的感知信息较少或几乎没有,希望获得更多信息,特别是高风险基因(<20%)。感知信息的数量与进一步信息的愿望呈负相关(p<0.0001)。较高的教育水平与 GRF 相关的感知信息量较低有关。被咨询者的年龄越小(β=0.13,p=0.02)和应对方式(例如寻求信息的倾向)越不频繁(β=0.24,p=0.02)与 NGRF 相关的感知信息量较低有关。评估的其他被咨询者特征与 GRF 和 NGRF 信息感知无关。

结论

意识到被咨询者对 BC 风险因素的感知缺乏信息表明需要加强对 BC NGRF 的循证信息。

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