Bohaumilitzky Lena, Gebert Johannes, Doeberitz Magnus von Knebel, Kloor Matthias, Ahadova Aysel
Institute of Pathology University Hospital Heidelberg Heidelberg Germany.
University Hospital Heidelberg Department of Applied Tumor Biology, Institute of Pathology Heidelberg Germany.
Med Genet. 2023 Dec 5;35(4):259-268. doi: 10.1515/medgen-2023-2049. eCollection 2023 Dec.
Genetic predisposition is one of the major measurable cancer risk factors. Affected patients have an enhanced risk for cancer and require life-long surveillance. However, current screening measures are mostly invasive and only available for certain tumor types. Particularly in hereditary cancer syndromes, liquid biopsy, in addition to monitoring therapy response and assessing minimal residual disease, holds great potential for surveillance at the precancerous stage and potentially even diagnostics. Exploring these options and future clinical translation could help reduce cancer risk and mortality in high-risk individuals and enhance patients' adherence to tailored surveillance protocols.
遗传易感性是主要的可测量癌症风险因素之一。受影响的患者患癌风险增加，需要终身监测。然而，目前的筛查措施大多具有侵入性，且仅适用于某些肿瘤类型。特别是在遗传性癌症综合征中，液体活检除了可监测治疗反应和评估微小残留病外，在癌前阶段的监测甚至潜在的诊断方面具有巨大潜力。探索这些选择以及未来的临床转化有助于降低高危个体的癌症风险和死亡率，并提高患者对定制监测方案的依从性。
