一种针对年轻癌症患者的癌症易感性筛查工具。

Tim Ripperger,Christian P Kratz
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摘要

每12个恶性肿瘤中就有1个是在20至39岁的年轻人中被诊断出来的。这一年龄段的癌症已知最相关的原因之一(约占癌症患者的10%)是源于体质或受精卵后体细胞(epi-)遗传变异的遗传癌症易感性,与一般人群相比,导致癌症风险增加。癌症易感性综合征的诊断很重要,因为它可以影响癌症的监测、预防和治疗。一些中心提供通用基因面板生殖系测序,然而,在资源有限的临床环境中,癌症易感性综合征筛查工具可以支持识别那些可能受益于遗传咨询和/或潜在遗传疾病检测的癌症患者。针对儿童癌症患者已经开发出了有效的筛查工具,但是对于患有癌症的年轻成年人,还缺乏可比较的癌症易感性综合征筛查算法。我们在这里提出了一个易于使用的癌症易感性综合征筛查工具,专门为年轻的成年人设计的癌症。通过结合现有建议和疾病特异性标准,该算法将重点放在恶性细胞的体细胞遗传发现、与癌症易感综合征密切相关的特定癌症类型以及个人和家族过去的病史上。这个工具可以提高肿瘤学家的临床意识,并促进年轻癌症患者的癌症易感综合征的诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Cancer Predisposition Screening Tool for Young Adults with Cancer.
One in twelve malignancies is diagnosed in a young adult between 20 and 39 years of age. One of the most relevant known causes of cancer in this age group, which is present in approximately 10% of cancer patients, is genetic cancer predisposition that originates from constitutional or postzygotic somatic (epi-)genetic variants leading to an increased cancer risk compared to the general population. The diagnosis of a cancer predisposition syndrome is important as it can affect cancer surveillance, prevention, and therapy. Universal gene-panel germline sequencing is offered by some centers, however, in clinical settings with limited resources, cancer predisposition syndrome screening tools can support the identification of those cancer patients who may benefit from genetic counselling and/or testing regarding underlying genetic diseases. Effective screening tools have been developed for children with cancer, but comparable cancer predisposition syndrome screening algorithms are lacking for young adults with cancer. We present here an easy-to-use cancer predisposition syndrome screening tool designed specifically for young adults with cancer. By combining available recommendations and disease-specific criteria, the algorithm is focusing on somatic genetic findings in malignant cells, specific cancer types strongly associated with cancer predisposition syndromes, and the personal and family past medical history. This tool may increase clinical awareness among oncologists and facilitate the diagnoses of cancer predisposition syndromes in young adults with cancer.
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