Characterization of medulloblastoma in Fanconi Anemia: A novel mutation in the BRCA2 gene and SHH molecular subgroup

Biomarker Research

Volumn 3, Issue 1, 2015, Pages

  Miele, Evelina ^a,b   Mastronuzzi, Angela ^c   Po, Agnese ^a   Carai, Andrea ^c   Alfano, Vincenzo ^a,b   Serra, Annalisa ^c   Colafati, Giovanna Stefania ^c   Strocchio, Luisa ^c   Antonelli, Manila ^d   Buttarelli, Francesca Romana ^d   Zani, Massimo ^a   Ferraro, Sergio ^a   Buffone, Amelia ^a   Vacca, Alessandra ^d   Screpanti, Isabella ^a   Giangaspero, Felice ^d,e   Giannini, Giuseppe ^a,f   Locatelli, Franco ^c   Ferretti, Elisabetta ^d  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b ISTITUTO ITALIANO DI TECNOLOGIA   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e IRCCS NEUROMED   (Italy)

^f Pasteur Institute   (Italy)

Author keywords

BRCA2; FANCD1; Fanconi anemia; Medulloblastoma; SHH molecular subgroup

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA5; BMI1 PROTEIN; BONE MORPHOGENETIC PROTEIN 2; BRCA2 PROTEIN; CARBOPLATIN; CREATININE; CYTARABINE; HEMOGLOBIN; LACTATE DEHYDROGENASE; MAMMALIAN TARGET OF RAPAMYCIN; MYC PROTEIN; N MYC PROTO ONCOGENE PROTEIN; PROTEIN PATCHED 1; PROTEIN PATCHED 2; RAPAMYCIN; SECRETED FRIZZLED RELATED PROTEIN 1; SOMATOMEDIN B; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR EZH2; TRANSCRIPTION FACTOR GLI1; TRANSCRIPTION FACTOR OTX2; VINCRISTINE;

ANEMIA; ARTICLE; BLOOD TOXICITY; BRAIN FOURTH VENTRICLE; BRCA2 GENE; CAFE AU LAIT SPOT; CANCER SURGERY; CASE REPORT; CEREBELLUM INJURY; CHILD; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DIASTOLIC BLOOD PRESSURE; DNA SEQUENCE; ECHOCARDIOGRAPHY; EDEMA; FANCONI ANEMIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ANALYZER; GROWTH RETARDATION; HEMATURIA; HISTOLOGY; HISTOPATHOLOGY; HUMAN; HYPERTENSION; HYPERURICEMIA; HYPOPIGMENTATION; KIDNEY DISEASE; KIDNEY FAILURE; LOW DRUG DOSE; LUNG METASTASIS; MEAN CORPUSCULAR VOLUME; MEDULLOBLASTOMA; MITRAL VALVE REGURGITATION; NEOADJUVANT CHEMOTHERAPY; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCYTOPENIA; POSTERIOR CRANIAL FOSSA TUMOR; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY FAILURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RIB MALFORMATION; SCOLIOSIS; SEPSIS; SHH GENE; SYSTOLIC BLOOD PRESSURE; UREA NITROGEN BLOOD LEVEL;

EID: 85024104793     PISSN: None     EISSN: 20507771     Source Type: Journal    
DOI: 10.1186/s40364-015-0038-z     Document Type: Article

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