Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families.

IF 2 4区 医学 Q3 ONCOLOGY
Tracy Lowe, Jane DeLuca, Ludovico Abenavoli, Luigi Boccuto
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Abstract

Background: Familial pancreatic cancer touches families through a genetic susceptibility to developing this neoplasia. Genetic susceptibility is assessed via family history, genetic testing, or both. Individuals with two or more first-degree relatives or three or more relatives of any degree diagnosed with pancreatic cancer are considered at elevated risk. Following a diagnosis of familial pancreatic cancer, patients and families face uncertainty and anxiety about the future. Psychosocial effects of a pancreatic cancer diagnosis on families include fear, concerns about personal health, and how lifestyle may impact the risk of developing pancreatic cancer.

Case presentation: A 66-year-old male was diagnosed with pancreatic ductal adenocarcinoma stage IIB, T3, N1, M0. A genetic referral was made due to a history of multiple cases of pancreatic cancer within the patient's family. Genetic testing revealed the patient had a pathogenic variant in the ATM gene that is associated with an increased risk for pancreatic cancer development. The patient's one adult child was offered testing due to the autosomal dominant pattern of inheritance for this variant. The adult child was found to have the same pathogenic variant. She expressed fear for her future and her child's future health and longevity. Discussing a case study allows us to capture the multi-faceted relationship between the disease, the affected individuals, and their families. Examining the psychosocial stresses and concerns when there is a pancreatic cancer diagnosis in the family is essential to provide holistic care to patients and families.

Conclusions: The psychosocial effects of FPC may be overwhelming for patients and families. Healthcare providers can offer education, support, and referrals to appropriate services to help families cope through stages of evaluation, diagnosis, and treatment of FPC.

Abstract Image

家族性胰腺癌:诊断对家庭的心理社会影响的个案研究和回顾。
背景:家族性胰腺癌通过发生这种肿瘤的遗传易感性接触家族。遗传易感性通过家族史、基因检测或两者同时评估。有两个或两个以上一级亲属或三个或三个以上亲属被诊断患有胰腺癌的人被认为是高危人群。在被诊断为家族性胰腺癌后,患者及其家人面临着对未来的不确定性和焦虑。胰腺癌诊断对家庭的心理社会影响包括恐惧、对个人健康的担忧以及生活方式如何影响患胰腺癌的风险。病例介绍:66岁男性,诊断为胰管腺癌IIB, T3, N1, M0期。由于患者家族中有多例胰腺癌的病史,因此进行了遗传转诊。基因检测显示,患者的ATM基因有致病变异,这与胰腺癌发展的风险增加有关。由于该变异的常染色体显性遗传模式,患者的一个成年子女接受了检测。发现成年儿童具有相同的致病变异。她表达了对自己和孩子未来健康和长寿的担忧。讨论一个案例研究可以让我们捕捉到疾病、受影响的个人和他们的家庭之间的多方面关系。当家庭中有胰腺癌诊断时,检查心理社会压力和担忧对于向患者和家庭提供全面护理至关重要。结论:FPC对患者和家属的心理社会影响可能是压倒性的。医疗保健提供者可以提供教育、支持和转介到适当的服务,以帮助家庭应对FPC的评估、诊断和治疗阶段。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
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