Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes

被引：29

作者：

Taeubner, Julia ^{[1
]}

Wieczorek, Dagmar ^{[2
]}

Yasin, Layal ^{[1
]}

Brozou, Triantafyllia ^{[1
]}

Borkhardt, Arndt ^{[1
]}

Kuhlen, Michaele ^{[1
]}

机构：

[1] Heinrich Heine Univ, Univ Childrens Hosp, Med Fac, Dept Pediat Oncol Hematol & Clin Immunol, Dusseldorf, Germany

[2] Heinrich Heine Univ, Med Fac, Inst Human Genet, Dusseldorf, Germany

来源：

TRENDS IN CANCER | 2018年 / 4卷 / 11期

关键词：

GENOME-WIDE ASSOCIATION; TP53 MUTATION CARRIERS; GERMLINE MUTATIONS; GENETIC PREDISPOSITION; COLORECTAL-CANCER; BRCA2; MUTATIONS; OVARIAN-CANCER; LUNG-CANCER; RISK; DISEASE;

D O I：

10.1016/j.trecan.2018.09.002

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：718 / 728

页数：11

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