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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。

相似文献

[1]
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Breast. 2021-12

[2]
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[3]
Exploring the short-term impact of DNA-testing in breast cancer patients: the counselees' perception matters, but the actual BRCA1/2 result does not.

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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Online Training to Increase Genetic and Risk Literacy in Physicians Counseling Breast and Ovarian Cancer Patients for Genetic Testing.

Breast Care (Basel). 2025-4-23

[2]
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Cancer Med. 2025-6

[3]
Exploring the relationship between gut microbiota and breast cancer risk in European and East Asian populations using Mendelian randomization.

BMC Cancer. 2024-8-8

[4]
Suppression of B7-H7 Enhanced MCF-7 Cancer Cell Line's Chemosensitivity to Paclitaxel.

Mol Biotechnol. 2025-4

[5]
Mendelian randomization analysis revealed a gut microbiota-mammary axis in breast cancer.

Front Microbiol. 2023-8-23

[6]
Harnessing Epigenetics for Breast Cancer Therapy: The Role of DNA Methylation, Histone Modifications, and MicroRNA.

Int J Mol Sci. 2023-4-13

[7]
YouTube as an information source on BRCA mutations: implications for patients and professionals.

J Community Genet. 2022-4

本文引用的文献

[1]
Integrating Clinical and Polygenic Factors to Predict Breast Cancer Risk in Women Undergoing Genetic Testing.

JCO Precis Oncol. 2021

[2]
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

N Engl J Med. 2021-2-4

[3]
What improves the likelihood of people receiving genetic test results communicating to their families about genetic risk?

Patient Educ Couns. 2021-4

[4]
Family communication of genetic test results among women with inherited breast cancer genes.

J Genet Couns. 2021-6

[5]
Use of hormone replacement therapy and risk of breast cancer: nested case-control studies using the QResearch and CPRD databases.

BMJ. 2020-10-28

[6]
Examining information-seeking behavior in genetic testing for cancer predisposition: A qualitative interview study.

Patient Educ Couns. 2021-2

[7]
Impact of Breast Density Awareness on Knowledge about Breast Cancer Risk Factors and the Self-Perceived Risk of Breast Cancer.

Diagnostics (Basel). 2020-7-20

[8]
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort.

Genet Med. 2020-11

[9]
Women's responses and understanding of polygenic breast cancer risk information.

Fam Cancer. 2020-10

[10]
Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study.

PLoS One. 2020-3-6

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