Publications by authors named "C Kratz"
Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to an individually variable spectrum of cancers caused by pathogenic germline variants. We used a clustering method to assign TP53 missense variants to classes based on their functional activities in experimental assays assessing biological p53 functions. Correlations with LFS phenotypes were analyzed using the public germline mutation database and validated in three LFS clinical cohorts.
View Article and Find Full Text PDFRe-envisioning genetic predisposition to childhood and adolescent cancers.
Nat Rev Cancer
December 2024
Although cancer is rare in children and adolescents, it remains a leading cause of death within this age range, and genetic predisposition is the main known risk factor. Since the discovery of retinoblastoma-predisposing RB1 pathogenic germline variants in 1985, several additional high-penetrance cancer predisposition genes (CPGs) have been identified. Although few clinically recognizable genetic conditions display moderate cancer phenotypes, burden testing has revealed low-to-moderate penetrance CPGs.
View Article and Find Full Text PDFWilms tumors are commonly associated with predisposition syndromes. Many of these syndromes are associated with specific phenotypic features and are discussed in the related article from the AACR Pediatric Cancer Working Group. Guidelines for surveillance in this population were published in 2017, but since then several studies have identified new genes with recurrent pathogenic variants associated with increased risk for Wilms tumor development.
View Article and Find Full Text PDFArticle Synopsis
- Constitutional mismatch repair deficiency (CMMRD) is a rare genetic condition that significantly increases the lifetime risk of various cancers and has distinct non-cancer features, leading to evolving diagnosis and surveillance practices.* -
- A comprehensive set of 82 recommendations for CMMRD diagnosis, surveillance, and clinical management has been developed by experts to standardize care across Europe, incorporating new research findings and patient input.* -
- These recommendations provide detailed guidelines regarding testing criteria, age of initiation, frequency of surveillance, cancer treatment, and quality of life considerations—allowing for personalized adjustments based on individual patient needs.*
Background: Osteosarcoma may arise as a secondary malignancy following rhabdomyosarcoma (RMS). We utilized the Cooperative Osteosarcoma Study Group (COSS) database to better understand this association.
Patients And Methods: The COSS database (1980-05/2023) was searched for patients whose osteosarcoma was preceded by RMS.