This article, published in "Cancer Genetics", reports that a high proportion of rare pathogenic TP53 variants in the pediatric patients with osteosarcoma (OS) may be de novo. For further information click on the publication title.

In this article, published in "The New England Journal of Medicine", a mesenchymal hematoma of the liver (MHL) was discovered in two children with DICER1 syndrome. MHL is a benign tumor in children that is characterized by, among other things, cystically dilated bile ducts. The data of this study suggest that MHL is a new phenotype of DICER1 syndrome. For further information click on the publication title.

This article was published in the journal “SCIENCE ADVANCE” and reports on a newly discovered “modifier” of the p53 function of a variant and its possible influence on the cancer susceptibility of those affected. Please click on the publication title for more information.

This article, published in the journal “JAMA Oncology”, reports on the frequency of germline variants in cancer susceptibility genes in patients with osteosarcoma. The affected patients were included regardless of their family history. Please click on the publication title for more information.

This article, published in the magazine “Cancer”, reports on the psychosocial effects, as well as the feasibility and acceptance of early detection strategies in patients with Li-Fraumeni syndrome. Please click on the publication title for more information.

This article, published in “Nature” magazine, reports on a novel cancer predisposition gene associated with SHH medulloblastomas (SHH-MB). Furthermore, new findings on the tumor genome and the protein balance of SHH-MB are presented and discussed with regard to the mechanisms of cancer development. Please click on the publication title for more information.

This article, published in the “British Journal of Cancer”, analyses the incidence of cancer in children with Beckwith-Wiedemann spectrum and quantifies the cancer risk, especially with regard to genetic variants, for those affected. Please click on the publication title for more information.

This article published in the journal “Der Pathologe” gives an update on the Li-Fraumeni syndrome. It highlights new findings and recommendations regarding treatment und surveillance strategies and gives an outline. Furthermore, the Cancer Predisposition Syndrome Registry is presented. Please click on the publication title for more information.

This article, published in the Journal “Cancer Cytopathology”, reports on the diagnostic accuracy of brush biopsy-based cytology of suspicious lesions in the oral cavity in patients with Fanconi Anemia. This less invasive method for the early detection of squamous cell carcinomas was described. Please click on the publication title for more information.

This article, published in the “Journal of Clinical Oncology”, reports about the cancer risk of DICER1 mutations and lists recommendations for genetic counseling. Please click on the publication title for more information.

In this article, published in the Journal of Medical Genetics, guidelines for the diagnosis of constitutional mismatch repair-deficiency syndrome (CMMD) as differential diagnosis of neurofibromatosis type 1 were published. Please click on the publication title for more information.

In this letter-to-the-editor article, published in the journal “Haematologica”, TP53, ETV6 and RUNX1 genes were analyzed to characterize their potential impact on second neoplasia development after ALL therapy in childhood. Please click on the publication title for more information.

This article, published in the Journal of Clinical Oncology, reports on a novel gene mutation, GPR161, which predisposes to medulloblastomas. It has been described that this mutation is associated with an increased risk of MB SHH tumors in infants. Please click on the publication title for more information.