Li-Fraumeni 综合征成人及其亲属的健康行为和癌症预防-德国队列描述。
Health Behavior and Cancer Prevention among Adults with Li-Fraumeni Syndrome and Relatives in Germany-A Cohort Description.
机构信息
Department of Gynecology and Obstetrics, University Hospital Heidelberg, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany.
Section of Psychosomatic Medicine, Psychotherapy and Psychooncology, Department of Internal Medicine II, Julius-Maximilian University Würzburg, Oberdürrbacher Straße 6, 97080 Würzburg, Germany.
出版信息
Curr Oncol. 2022 Oct 15;29(10):7768-7778. doi: 10.3390/curroncol29100614.
Li-Fraumeni-syndrome (LFS) is a rare, highly penetrant cancer predisposition syndrome (CPS) caused by pathogenic variants (PVs) in . Physical activity (PA) and a Mediterranean diet lead to cancer reduction or survival benefits and increased quality of life (QoL), but this is yet unstudied among LFS. PV carriers (PVC) and their relatives were questioned on dietary patterns (Mediterranean Diet Adherence Screener), PA (Freiburg Questionnaire), QoL (Short-form-Health-Survey-12), smoking, alcohol consumption and perception of cancer risk in a German bi-centric study from March 2020-June 2021. The study enrolled 70 PVC and 43 relatives. Women compared to men (6.49 vs. 5.38, = 0.005) and PVC to relatives (6.59 vs. 5.51; = 0.006) showed a healthier diet, associated with participation in surveillance ( = 0.04) and education (diet = 0.02 smoking = 0.0003). Women smoked less (2.91 vs. 5.91 packyears; = 0.03), psychological well-being was higher among men (SF-12: males 48.06 vs. females 41.94; = 0.004). PVC rated their own cancer risk statistically higher than relatives (72% vs. 38%, < 0.001) however, cancer risk of the general population was rated lower (38% vs. 70%, < 0.001). A relative's cancer-related death increased the estimated personal cancer risk ( = 0.01). The possibilities of reducing cancer through self-determined health behavior among PVC and relatives has not yet been exhausted. Educating families with a CPS on cancer-preventive behavior requires further investigation with regard to acceptance and real-life implementation.
李-佛美尼综合征（Li-Fraumeni-syndrome，LFS）是一种罕见的、高外显率的癌症易感综合征（cancer predisposition syndrome，CPS），由致病性变异（pathogenic variants，PVs）引起。身体活动（physical activity，PA）和地中海饮食可降低癌症风险或带来生存获益，并提高生活质量（quality of life，QoL），但 LFS 患者中尚未对此进行研究。2020 年 3 月至 2021 年 6 月，在德国的一项双中心研究中，我们对 70 名 PV 携带者（PV carriers，PVC）及其亲属进行了饮食模式（地中海饮食依从性筛查器）、身体活动（弗赖堡问卷）、QoL（健康调查短表-12）、吸烟、饮酒以及对癌症风险的认知的问卷调查。该研究共纳入 70 名 PVC 和 43 名亲属。与男性相比（6.49 比 5.38， = 0.005），女性以及 PVC 与亲属相比（6.59 比 5.51， = 0.006）饮食更健康，与接受监测（ = 0.04）和教育（饮食 = 0.02 吸烟 = 0.0003）有关。女性吸烟较少（2.91 比 5.91 包年； = 0.03），男性的心理幸福感更高（SF-12：男性 48.06 比女性 41.94； = 0.004）。与亲属相比，PVC 自己认为癌症风险更高（72%比 38%， < 0.001），但对一般人群的癌症风险评估较低（38%比 70%， < 0.001）。亲属的癌症相关死亡增加了个人癌症风险的预估（ = 0.01）。PVC 和亲属通过自我决定的健康行为降低癌症风险的可能性尚未耗尽。关于癌症预防行为，需要进一步调查具有 CPS 家族的接受度和实际实施情况。
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