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

التفاصيل البيبلوغرافية
العنوان: Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
المؤلفون: Nicolai Kohlschmidt, Lude Franke, Cornelia Kraus, Christian P. Kratz, Silke Pauli, G Schlüter, Jürgen Kohlhase, F W Cremer, B Überlacker, A Bier, Mark H. Greene, B Auber, G Wildhardt, Claudia Nevinny-Stickel-Hinzpeter, B Kazmierczak, Kenneth H. Mayer, Christina Lissewski, Nadine Bachmann, Martin Zenker, C Daumer-Haas, B Eichhorn, M Gencik, U Finckh, C Blank, A Christmann, Hartmut Peters, Kerstin Kutsche, F Oeffner, Diana Mitter, Ina Schanze, Claudia Spix
المصدر: British Journal of Cancer
بيانات النشر: Nature Publishing Group, 2015.
سنة النشر: 2015
مصطلحات موضوعية: Male, Cancer Research, Ectodermal dysplasia, Pathology, cancer risk, 0302 clinical medicine, Costello syndrome, Ectodermal Dysplasia, Risk Factors, Germany, Neoplasms, Registries, skin and connective tissue diseases, Child, 0303 health sciences, digestive, oral, and skin physiology, Costello Syndrome, Noonan Syndrome, Cardio facio cutaneous, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Failure to thrive, Female, medicine.symptom, cancer risk variants, Signal Transduction, musculoskeletal diseases, Heart Defects, Congenital, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, 03 medical and health sciences, medicine, Humans, cardiovascular diseases, Molecular Diagnostics, Germ-Line Mutation, 030304 developmental biology, business.industry, Cancer, Facies, Infant, medicine.disease, Dermatology, Failure to Thrive, RASopathy, ras Proteins, Noonan syndrome, business
الوصف: 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). This corresponds to a 10.5-fold increased risk of all childhood cancers combined (standardised incidence ratio (SIR)=10.5, 95% confidence interval=5.4–18.3). The specific cancers included juvenile myelomonocytic leukaemia=4; brain tumour=3; acute lymphoblastic leukaemia=2; rhabdomyosarcoma=2; and neuroblastoma=1. The childhood cancer SIR in Noonan syndrome patients was 8.1, whereas that for Costello syndrome patients was 42.4. Conclusions: These data comprise the first quantitative evidence documenting that the germline mutations in Ras signalling pathway genes are associated with increased risks of both childhood leukaemia and solid tumours.
اللغة: English
تدمد: 1532-1827
0007-0920
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a913d8e72ad0e95b4de72709e8abf453
http://europepmc.org/articles/PMC4402457
Rights: OPEN
رقم الانضمام: edsair.doi.dedup.....a913d8e72ad0e95b4de72709e8abf453
قاعدة البيانات: OpenAIRE
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