title: A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung.
abstract: Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (PTCH1) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of PTCH1 in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient.
authors.affiliation: Department of Thoracic surgery, Kyoto University Graduate School of Medicine , Kyoto, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Miyata
authors.affiliation: Department of Diagnostic Pathology, Kyoto University Hospital , Kyoto, Japan.
authors.forename: Manabu
authors.initials: M
authors.lastname: Kurosawa
authors.affiliation: Department of Thoracic surgery, Kyoto University Graduate School of Medicine , Kyoto, Japan.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Sato
authors.affiliation: Department of Thoracic surgery, Kyoto University Graduate School of Medicine , Kyoto, Japan.
authors.forename: Tomoya
authors.initials: T
authors.lastname: Kono
authors.affiliation: Department of Thoracic surgery, Kyoto University Graduate School of Medicine , Kyoto, Japan.
authors.forename: Yasutaka
authors.initials: Y
authors.lastname: Takubo
authors.affiliation: Department of Immunology, Faculty of Bioscience, Nagahama Institute of Bio-Science and Technology , Nagahama, Japan.
authors.forename: Shinsaku
authors.initials: S
authors.lastname: Okai
authors.affiliation: Department of Immunology, Faculty of Bioscience, Nagahama Institute of Bio-Science and Technology , Nagahama, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Yamada
authors.affiliation: Department of Immunology, Faculty of Bioscience, Nagahama Institute of Bio-Science and Technology , Nagahama, Japan.
authors.forename: Reiko
authors.initials: R
authors.lastname: Shinkura
authors.affiliation: Department of Thoracic surgery, Kyoto University Graduate School of Medicine , Kyoto, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Date
authors.affiliation: The Center for Genomic Medicine, Kyoto University Graduate School of Medicine , Kyoto, Japan.
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Matsuda