Taeubner Julia, Wieczorek Dagmar, Yasin Layal, Brozou Triantafyllia, Borkhardt Arndt, Kuhlen Michaela
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Trends Cancer. 2018 Nov;4(11):718-728. doi: 10.1016/j.trecan.2018.09.002. Epub 2018 Sep 20.
Inherited diseases are not always expressed in the same way in every individual that carries the same variant in a disease-causing gene. This phenomenon is known as reduced or incomplete penetrance. Variable and incomplete penetrance may explain why inherited diseases are occasionally transmitted through unaffected parents, but also why clinically healthy individuals can carry potentially pathogenic variants without expressing features of the disease. Here, we will provide an overview of factors that play a fundamental role in the concept of penetrance and expressivity of cancer predisposing genes in children with malignancies. These findings are important to understand the complexity of inherited diseases and cancer development and to improve genetic counselling for the affected families.
遗传性疾病在每个携带致病基因相同变异的个体中并不总是以相同方式表现。这种现象被称为外显率降低或不完全外显。可变和不完全外显可能解释了为什么遗传性疾病偶尔会通过未受影响的父母遗传，也解释了为什么临床健康的个体可以携带潜在的致病变异而不表现出疾病特征。在此，我们将概述在患有恶性肿瘤的儿童中，对癌症易感基因的外显率和表现度概念起重要作用的因素。这些发现对于理解遗传性疾病和癌症发展的复杂性以及改善对受影响家庭的遗传咨询很重要。
