Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2

Pediatric Blood and Cancer

Volumn 50, Issue 6, 2008, Pages 1268-1270

  Jackson, Carl Christian ^a   Holter, Spring ^b   Pollett, Aaron ^b   Clendenning, Mark ^c   Chou, Shirley ^a   Senter, Leigha ^c   Ramphal, Raveena ^a   Gallinger, Steven ^b   Boycott, Kym ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

Caf au lait macules; Inherited cancer syndrome; Mismatch repair genes; Neurofibromatosis type 1; PMS2

Indexed keywords

BEVACIZUMAB; CAPECITABINE; DNA; FLUOROURACIL; IRINOTECAN; MISMATCH REPAIR PROTEIN PMS2; NEUROFIBROMIN; OXALIPLATIN;

ADENOCARCINOMA; ADENOMATOUS POLYP; ADOLESCENT; ANAMNESIS; ARTICLE; CAFE AU LAIT SPOT; CANCER CHEMOTHERAPY; CANCER GENETICS; CASE REPORT; CHILDHOOD CANCER; COLON TUMOR; COMPUTER ASSISTED TOMOGRAPHY; FAMILIAL CANCER; FAMILY HISTORY; GENE; GENE MUTATION; GERMLINE MICRONUCLEUS; HEREDITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LAPAROTOMY; LIVER CELL CARCINOMA; LIVER INJURY; LIVER METASTASIS; MALE; MALIGNANT NEOPLASTIC DISEASE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MISSENSE MUTATION; PMS2 GENE; PRIORITY JOURNAL; RADIOFREQUENCY; RADIOFREQUENCY ABLATION; SIGMOID CARCINOMA; STAINING; TUMOR RECURRENCE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ALLELES; CAFE-AU-LAIT SPOTS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; GERM-LINE MUTATION; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 42349096088     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.21514     Document Type: Article

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