Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

• Published in: Nature genetics Vol. 44; no. 7; pp. 783 - 787
• Main Authors: Groesser, Leopold, Herschberger, Eva, Ruetten, Arno, Ruivenkamp, Claudia, Lopriore, Enrico, Zutt, Markus, Langmann, Thomas, Singer, Sebastian, Klingseisen, Laura, Schneider-Brachert, Wulf, Toll, Agusti, Real, Francisco X, Landthaler, Michael, Hafner, Christian
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.07.2012; Nature Publishing Group
• Subjects: 631/208/2489/144; 631/208/727/2000; 631/67/68; 692/699/375; Abnormalities, Multiple - genetics; Adolescent; Adult; Aged; Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Cell culture; Cell physiology; Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes; Child; Child, Preschool; Dermatology; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genes; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Health aspects; Human Genetics; Humans; letter; Male; Medical sciences; Mitogen-Activated Protein Kinase Kinases - genetics; Molecular and cellular biology; Mosaicism; Mutation; Nervous system diseases; Nevus - genetics; Nevus, Sebaceous of Jadassohn - genetics; Pathogenesis; Phosphatidylinositol 3-Kinases - genetics; Phosphorylation; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins c-akt - genetics; Proto-Oncogene Proteins p21(ras) - genetics; ras Proteins - genetics; Risk factors; Signal Transduction; Studies; Tumors of the skin and soft tissue. Premalignant lesions; Twins; Young Adult; Germany; Skin disease; Benign neoplasm; Mutation; Onc gene; Sebaceous nevus; Syndrome

Christian Hafner and colleagues identify postzygotic HRAS and KRAS mutations as the cause of nevus sebaceous and Schimmelpenning syndrome. Their functional studies suggest that the HRAS p.Gly13Arg alteration, found in 91% of lesions, results in activation of the MAPK and PI3K-Akt signaling pathways....