Ontology highlight
ABSTRACT:
SUBMITTER: Emmerich D
PROVIDER: S-EPMC4795057 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Emmerich Denise D Zemojtel Tomasz T Hecht Jochen J Krawitz Peter P Spielmann Malte M Kühnisch Jirko J Kobus Karolina K Osswald Monika M Heinrich Verena V Berlien Peter P Müller Ute U Mautner Victor-F VF Wimmer Katharina K Robinson Peter N PN Vingron Martin M Tinschert Sigrid S Mundlos Stefan S Kolanczyk Mateusz M
European journal of human genetics : EJHG 20141008 6
Neurofibromatosis type 1 (NF1) (MIM#162200) is a relatively frequent genetic condition that predisposes to tumor formation. The main types of tumors occurring in NF1 patients are cutaneous and subcutaneous neurofibromas, plexiform neurofibromas, optic pathway gliomas, and malignant peripheral nerve sheath tumors. To search for somatic mutations in cutaneous (dermal) neurofibromas, whole-exome sequencing (WES) was performed on seven spatially separated tumors and two reference tissues (blood and ...[more]