title: Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma.
abstract: We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. They both had ataxia with cerebellar atrophy and mental retardation. They had the same mutation of the MRE11 gene, which has not been reported previously (c.727T>C and g.24994G>A).
authors.affiliation: Division of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Uchisaka
authors.forename: Naomi
authors.initials: N
authors.lastname: Takahashi
authors.forename: Masaki
authors.initials: M
authors.lastname: Sato
authors.forename: Akira
authors.initials: A
authors.lastname: Kikuchi
authors.forename: Shinji
authors.initials: S
authors.lastname: Mochizuki
authors.forename: Kohsuke
authors.initials: K
authors.lastname: Imai
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Watanabe
authors.forename: Shuki
authors.initials: S
authors.lastname: Mizutani
authors.forename: Ryoji
authors.initials: R
authors.lastname: Hanada
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy; D000293:Adolescent; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics*; D001344:Autopsy; D018394:CA-125 Antigen / Q000097:blood; D016190:Carboplatin / Q000627:therapeutic use; D002648:Child; D003131:Combined Modality Therapy; D004268:DNA-Binding Proteins / Q000235:genetics; D000077143:Docetaxel; D004359:Drug Therapy, Combination; D017809:Fatal Outcome; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy; D000076228:MRE11 Homologue Protein; D008297:Male; D009154:Mutation; D035781:Siblings; D043823:Taxoids / Q000627:therapeutic use
chemical_list: D000970:Antineoplastic Agents; D018394:CA-125 Antigen; D004268:DNA-Binding Proteins; C121766:MRE11 protein, human; D043823:Taxoids; D000077143:Docetaxel; D016190:Carboplatin; D000076228:MRE11 Homologue Protein