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新诊断乳腺癌病例中家族性癌症风险咨询的推荐与接受情况

Recommendation and Acceptance of Counselling for Familial Cancer Risk in Newly Diagnosed Breast Cancer Cases.

作者信息

Kast Karin, Häfner Julia, Schröck Evelin, Jahn Arne, Werner Carmen, Meisel Cornelia, Wimberger Pauline

机构信息

Center of Familial Breast and Ovarian Cancer and Center of Integrated Oncology, University Hospital Cologne, Cologne, Germany.

Department of Gynecology and Obstetrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

出版信息

Breast Care (Basel). 2022 Apr;17(2):153-158. doi: 10.1159/000517021. Epub 2021 Jun 17.

DOI:10.1159/000517021
PMID:35702497
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9149417/
Abstract

BACKGROUND

In clinical routine, not every patient who is offered genetic counselling and diagnostics in order to investigate a familial cancer risk predisposition opts for it. Little is known about acceptance of counselling and testing in newly diagnosed breast cancer cases in Germany.

METHODS

All primary breast cancer cases and patients with DCIS (ductal carcinoma in situ) treated at the University Hospital of Dresden between 2016 and 2019 were included. The number of tumor board recommendations for genetic counselling on the basis of the GC-HBOC risk criteria was recorded. Acceptance was analyzed by number of cases with counselling in the GC-HBOC-Center Dresden.

RESULTS

Of 996 primary breast cancer and DCIS cases, 262 (26.3%) were eligible for genetic counselling. Recommendation for genetic counselling was accepted by 64.1% (168/262). Of these 90.5% (152/168) opted for molecular genetic analysis. The acceptance rate for counselling increased between 2016 and 2019 from 58.3 to 72.6%. Altogether, 20.4% (31/152) patients were found to carry a pathogenic variant in the breast cancer genes or .

CONCLUSION

Acceptance of recommendation is increasing as clinical consequences augment. Optimization in providing information about hereditary cancer risk and in accessibility of counselling and testing is required to further improve acceptance of recommendation.

摘要

背景

在临床实践中,并非每一位为调查家族性癌症风险易感性而接受遗传咨询和诊断的患者都会选择这样做。在德国,对于新诊断出的乳腺癌病例,人们对咨询和检测的接受情况知之甚少。

方法

纳入2016年至2019年在德累斯顿大学医院接受治疗的所有原发性乳腺癌病例和导管原位癌(DCIS)患者。记录根据GC-HBOC风险标准提出的遗传咨询肿瘤委员会建议的数量。通过德累斯顿GC-HBOC中心接受咨询的病例数分析接受情况。

结果

在996例原发性乳腺癌和DCIS病例中,262例(26.3%)符合遗传咨询条件。64.1%(168/262)的遗传咨询建议被接受。其中90.5%(152/168)选择了分子遗传学分析。2016年至2019年期间,咨询的接受率从58.3%提高到72.6%。总共发现20.4%(31/152)的患者在乳腺癌基因或中携带致病变异。

结论

随着临床后果的增加,对建议的接受度在提高。需要优化关于遗传性癌症风险的信息提供以及咨询和检测的可及性,以进一步提高对建议的接受度。