A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Behjati, Sam ^a,b   Maschietto, Mariana ^c   Williams, Richard D ^c   Side, Lucy ^d   Hubank, Mike ^c   West, Rebecca ^c   Pearson, Katie ^c   Sebire, Neil ^d   Tarpey, Patrick ^b   Futreal, Andrew ^b   Brooks, Tony ^c   Stratton, Michael R ^a   Anderson, John ^c  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; ARGININE; DACTINOMYCIN; DNA; GLUTAMINE; VINCRISTINE; PROTEIN P53; TP53 PROTEIN, HUMAN;

ALK GENE; ARTICLE; CANCER SUSCEPTIBILITY; CASE REPORT; CHILD; FAMILIAL CANCER; GENE; GENE MUTATION; GERM LAYER; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; KIDNEY BIOPSY; MALE; MESENCHYMOMA; MOSAICISM; NEUROBLASTOMA; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; SARCOMA; SDH GENE; TUMOR SUPPRESSOR GENE; GENETICS; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; LI-FRAUMENI SYNDROME; MALE; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84927176106     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0096531     Document Type: Article

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