Katharina Wimmer

TL;DR: An extensive assessment of mutation burden through sequencing analysis of >81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused by chemotherapy, carcinogens, or germline alterations, uncovered new driver mutations in the replication-repair-associated DNA polymerases and a distinct impact of microsatellite instability and replication repair deficiency on the scale of mutation load.

TL;DR: It is expected that application of the suggested strategy for CMMRD diagnosis will increase the number of patients being identified at the time when they develop their first tumour, allowing adjustment of the treatment modalities, offering surveillance strategies for second malignancies and appropriate counselling of the entire family.

TL;DR: The genetic, clinical and pathological findings of the so far 78 reported patients of 46 families suffering from this recessively inherited cancer syndrome are summarised.

TL;DR: This study provides valuable predictors for the splicing pathway used upon 5′ss mutation, and underscores the importance of using RNA‐based techniques, together with methods to identify microdeletions and intragenic copy‐number changes, for effective and reliable NF1 mutation detection.

TL;DR: The results provide evidence that PLAG1 overexpression may be responsible for the frequently observed up‐regulation of IGF2 in hepatoblastoma and therefore may be implicated in the molecular pathogenesis of this childhood neoplasia.