Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines

European Journal of Cancer

Volumn 47, Issue 7, 2011, Pages 965-982

  Herkert, Johanna C ^a   Niessen, Renée C ^a   Olderode Berends, Maria J W ^a   Veenstra Knol, Hermine E ^a   Vos, Yvonne J ^a   Van Der Klift, Heleen M ^b   Scheenstra, Rene ^a   Tops, Carli M J ^b   Karrenbeld, Arend ^a   Peters, Frans T M ^a   Hofstra, Robert M W ^a   Kleibeuker, Jan H ^a   Sijmons, Rolf H ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Bi allelic PMS2 mutation; Constitutional MMR deficiency syndrome; Follow up recommendations; Paediatric gastrointestinal cancer

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

ALLELE; CLINICAL FEATURE; COLORECTAL ADENOMA; FOLLOW UP; FRAMESHIFT MUTATION; GASTROINTESTINAL POLYPOSIS; GENE DELETION; GENE LOSS; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; IMMUNOHISTOCHEMISTRY; INTESTINE CANCER; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW;

ADENOSINE TRIPHOSPHATASES; ADULT; BASE PAIR MISMATCH; CHILD; CHILD, PRESCHOOL; DNA REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; FOLLOW-UP STUDIES; GENE DELETION; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; INTESTINAL NEOPLASMS; INTESTINAL POLYPOSIS; MALE; MICROSATELLITE INSTABILITY; MICROSATELLITE REPEATS; MUTATION; SYNDROME;

EID: 79953709371     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejca.2011.01.013     Document Type: Article

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