Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals aged 13–81 years, enrolled in the US National Cancer Institute’s Li-Fraumeni Syndrome Study completed 66 interviews regarding their LFS experiences. An interdisciplinary team used modified grounded theory to examine family distress regarding expectations of loss and change due to likely cancer diagnoses, and the consequences of this likelihood across physical, social, and emotional domains. Disease-free periods were characterized by fearful anticipation of diagnosis or recurrence, uncertainty regarding post-treatment quality of life, and planning for shifts in family dynamics to enable caregiving. The chronicity of waiting for these changes incited dread and inhibited effective coping with the pragmatic, emotional, and existential challenges of the syndrome. Consequently, families reported high burden on roles and resources and limited guidance to prepare for, or achieve resolution with, grief. Anticipatory loss, the experience of bereavement prior to an expected change, distinguishes hereditary cancer risk from a sporadic diagnosis. Such grief is often incomplete in impact or meaning, subjected to rapid or profound change as conditions worsen, and poorly understood. In this study, losses were compounded by profound uncertainty, a chronic feature of LFS, which compromised mourning. Long-term engagement of mental health providers with bereavement training, in partnership with genetics providers, can provide invaluable educational and psychological support to families as they navigate these implacable challenges.

中文翻译：

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等待和“权衡”：患有李-弗劳梅尼综合症的个人和家庭的预期损失挑战。

Li-Fraumeni综合征（LFS）的特征是在多个部位存在多种原发性恶性肿瘤的风险，小儿发病，到70岁时接近完全外露，预防的选择有限以及疾病表现和预后的不确定性。参加美国国家癌症研究所的Li-Fraumeni综合征研究的45个家庭，包括117个年龄在13-81岁的个体，完成了有关LFS经历的66次访谈。一个跨学科的团队使用改进的扎根理论，研究了家庭痛苦，这些家庭痛苦是由于可能的癌症诊断导致的损失和变化的期望，以及这种可能性在身体，社会和情感领域的后果。无病期的特征在于对诊断或复发的恐惧预期，治疗后生活质量的不确定性，并计划改变家庭动态以实现照料。等待这些变化的长期性引起了恐惧，并阻碍了对症候群的实用，情感和生存挑战的有效应对。因此，家庭报告称角色和资源负担沉重，为备受悲伤折磨或达成解决方案的指导有限。预期损失，即预期变化之前的丧亲之痛，将遗传性癌症风险与零星诊断区分开来。这种悲伤的影响或意义往往不完整，随着情况的恶化而迅速或深刻地变化，人们对此知之甚少。在这项研究中，损失是由深深的不确定性（LFS的一种慢性特征）加重的，这种不确定性损害了哀悼。精神卫生服务提供者长期参与丧亲培训，