Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma.
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).
Uchisaka
Naoki
N
Division of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.
Takahashi
Naomi
N
Sato
Masaki
M
Kikuchi
Akira
A
Mochizuki
Shinji
S
Imai
Kohsuke
K
Nonoyama
Shigeaki
S
Ohara
Osamu
O
Watanabe
Fumiaki
F
Mizutani
Shuki
S
Hanada
Ryoji
R
Morio
Tomohiro
T
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
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