Recommended Publications on CPS

2020-10-22T15:19:49+02:00

“Mesenchymal Hamartoma of Liver and DICER1 Syndrome”

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.

2020-07-22T15:24:17+02:00

XAF1 as a modifier of p53 function and cancer susceptibility”

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.

2020-07-22T14:51:56+02:00

“Germline Elongator mutations in Sonic Hedgehog medulloblastoma“

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.

2020-07-22T14:12:26+02:00

“Diagnostic Accuracy of Brush-Biopsy-Based Cytology for the Early Detection of Oral Cancer and Precursor in Fanconi Anemia”

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.

2020-07-22T14:11:52+02:00

“Ein Update zum Li-Fraumeni-Syndrom”

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.

2020-07-22T14:13:41+02:00

“Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma”

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.