携带乳腺癌基因种系致病性变异的转移性前列腺癌男性:向亲属透露基因检测结果。

Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives.

机构信息

Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Heidelberglaan 100, CX Utrecht, 3584, The Netherlands.

Department of Urology, Radboud University Medical Center, Geert Grooteplein Zuid 10, GA Nijmegen, 6525, The Netherlands.

出版信息

Fam Cancer. 2024 Jun;23(2):165-175. doi: 10.1007/s10689-024-00377-0. Epub 2024 May 9.

Abstract

Some patients with metastatic prostate cancer carry a pathogenic germline variant (PV) in a gene, that is mainly associated with an increased risk of breast cancer in women. If they test positive for such a PV, prostate cancer patients are encouraged to disclose the genetic test result to relatives who are at risk in case the carrier status changes the relatives' medical care. Our study aimed to investigate how men who learned they carry a PV in BRCA1, BRCA2, PALB2, CHEK2 or ATM disclosed their carrier status to at-risk relatives and to assess the possible psychological burden for the carrier and their perception of the burden for relatives. In total, 23 men with metastatic prostate cancer carrying a PV completed the IRI questionnaire about family communication; 14 also participated in a semi-structured interview. Patients felt highly confident in discussing the genetic test result with relatives. The diagnosis of prostate cancer was experienced as a burden, whereas being informed about genetic testing results did in most cases not add to this burden. Two patients encountered negative experiences with family communication, as they considered the genetic test result to be more urgent than their relatives. This mixed-methods study shows that metastatic prostate cancer patients with a PV in genes mainly associated with increased risk of breast cancer feel well-equipped to communicate about this predisposition in their families. Carriers felt motivated to disclose their genetic test result to relatives. Most of them indicated that the disclosure was not experienced as a psychological burden.

摘要

一些患有转移性前列腺癌的患者携带有致病性种系变异(PV),这种变异主要与女性乳腺癌风险增加相关。如果这些患者检测到此类 PV 呈阳性,他们会被鼓励将基因检测结果告知有风险的亲属,如果携带者的状态改变了亲属的医疗护理,那么这可能会影响亲属的健康。我们的研究旨在调查携带 BRCA1、BRCA2、PALB2、CHEK2 或 ATM 种系变异的男性如何向有风险的亲属披露其携带状态,并评估携带者可能面临的心理负担以及他们对亲属负担的感知。共有 23 名患有转移性前列腺癌且携带 PV 的男性完成了关于家庭沟通的 IRI 问卷;其中 14 名患者还参加了半结构化访谈。患者对与亲属讨论基因检测结果充满信心。前列腺癌的诊断被视为一种负担,而在大多数情况下,得知遗传检测结果并不会增加这种负担。有两名患者在家庭沟通方面遇到了负面体验,因为他们认为遗传检测结果比亲属更紧急。这项混合方法研究表明,携带主要与乳腺癌风险增加相关基因的 PV 的转移性前列腺癌患者认为自己能够很好地在家庭中交流这种易感性。携带者感到有动力向亲属透露他们的基因检测结果。他们中的大多数人表示,这并没有给他们带来心理负担。

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