Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

ABSTRACT:

Background

Somatic mutations affecting components of the Ras-MAPK pathway are a common feature of cancer, whereas germline Ras pathway mutations cause developmental disorders including Noonan, Costello, and cardio-facio-cutaneous syndromes. These 'RASopathies' also represent cancer-prone syndromes, but the quantitative cancer risks remain unknown.

Methods

We investigated the occurrence of childhood cancer including benign and malignant tumours of the central nervous system in a group of 735 individuals with germline mutations in Ras signalling pathway genes by matching their information with the German Childhood Cancer Registry.

Results

We observed 12 cases of cancer in the entire RASopathy cohort vs 1.12 expected (based on German population-based incidence rates). Th

SUBMITTER: Kratz CP 

PROVIDER: S-EPMC4402457 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature