Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome

European Journal of Cancer

Volumn 51, Issue 8, 2015, Pages 977-983

  Durno, Carol A ^a,b   Sherman, Philip M ^a   Aronson, Melyssa ^a   Malkin, David ^a   Hawkins, Cynthia ^a   Bakry, Doua ^a   Bouffet, Eric ^a   Gallinger, Steven ^a   Pollett, Aaron ^a   Campbell, Brittany ^c   Tabori, Uri ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Caf au lait macules; Colon cancer; Lynch syndrome; Polyposis; Surveillance; Turcot's syndrome

Indexed keywords

MISMATCH REPAIR PROTEIN;

BIALLELIC MISMATCH REPAIR DEFICIENCY SYNDROME; BRAIN TUMOR; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE SURVEILLANCE; FAMILY; FAMILY HISTORY; FUNCTION TEST; GENETIC COUNSELING; GENETIC DISORDER; GENOTYPE; HEMATOLOGIC MALIGNANCY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; ADULT; ALLELIC IMBALANCE; BRAIN NEOPLASMS; CAFE AU LAIT SPOT; CHILD; CLASSIFICATION; COLORECTAL NEOPLASMS; FAMILY HEALTH; FEMALE; GENETICS; HEMATOLOGIC DISEASE; INTESTINE POLYP; MALE; MICROSATELLITE INSTABILITY; NEOPLASTIC SYNDROMES, HEREDITARY; PATHOLOGY;

ADULT; ALLELIC IMBALANCE; BRAIN NEOPLASMS; CAFE-AU-LAIT SPOTS; CHILD; COLORECTAL NEOPLASMS; FAMILY HEALTH; FEMALE; GENOTYPE; HEMATOLOGIC NEOPLASMS; HUMANS; INTESTINAL POLYPS; MALE; MICROSATELLITE INSTABILITY; NEOPLASTIC SYNDROMES, HEREDITARY; PHENOTYPE;

EID: 84928963165     PISSN: 09598049     EISSN: 18790852     Source Type: Journal    
DOI: 10.1016/j.ejca.2015.02.008     Document Type: Review

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