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

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY
Familial Cancer Pub Date : 2024-06-01 Epub Date: 2024-05-09 DOI:10.1007/s10689-024-00377-0
Michiel Vlaming, Margreet G E M Ausems, Gina Schijven, Inge M van Oort, C Marleen Kets, Fenne L Komdeur, Lizet E van der Kolk, Rogier A Oldenburg, Rolf H Sijmons, Lambertus A L M Kiemeney, Eveline M A Bleiker
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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.

携带乳腺癌基因致病种系变异的转移性前列腺癌男性患者:向亲属披露基因检测结果。
有些转移性前列腺癌患者携带一种致病基因的种系变异(PV),这种基因主要与女性患乳腺癌的风险增加有关。如果前列腺癌患者的基因检测结果呈阳性,我们鼓励他们向有风险的亲属透露基因检测结果,以防携带者身份改变亲属的医疗护理。我们的研究旨在调查得知自己携带 BRCA1、BRCA2、PALB2、CHEK2 或 ATM PV 的男性如何向高危亲属披露自己的携带者身份,并评估携带者可能承受的心理负担以及他们对亲属负担的看法。共有 23 名携带 PV 的转移性前列腺癌男性患者完成了有关家庭沟通的 IRI 问卷调查,其中 14 人还参加了半结构化访谈。患者在与亲属讨论基因检测结果时信心十足。前列腺癌的诊断是一种负担,而在大多数情况下,获知基因检测结果并不会加重这种负担。有两名患者在与家人沟通时遇到了负面体验,因为他们认为基因检测结果比其亲属更迫切。这项混合方法研究表明,转移性前列腺癌患者的基因中的 PV 主要与乳腺癌风险增加有关,他们认为自己完全有能力与家人沟通这种易感性。基因携带者认为自己有动力向亲属披露基因检测结果。他们中的大多数人表示,披露结果并不会造成心理负担。
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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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