Novel MLH1 duplication identified in Colombian families with Lynch syndrome

Genetics in Medicine

Volumn 13, Issue 2, 2011, Pages 155-160

  Alonso Espinaco, Virginia ^a   Giráldez, María Dolores ^a   Trujillo, Carlos ^b   Van Der Klift, Heleen ^c   Muñoz, Jenifer ^a   Balaguer, Francesc ^a   Ocaña, Teresa ^a   Madrigal, Irene ^d   Jones, Angela M ^e   Echeverry, M Magdalena ^f   Velez, Alejandro ^g   Tomlinson, Ian ^e   Milà, Montserrat ^d   Wijnen, Juul ^c   Carvajal Carmona, Luis ^e,f   Castells, Antoni ^a   Castellví Bel, Sergi ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Dr Erfan and Bagedo General Hospital   (Saudi Arabia)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d HOSPITAL CLÍNIC   (Spain)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSIDAD DEL TOLIMA   (Colombia)

^g HOSPITAL PABLO TOBÓN URIBE   (Colombia)

Author keywords

Colombia; hereditary cancer; HNPCC; Lynch syndrome; MMR genes

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; ARTICLE; BASE MISPAIRING; COLOMBIA; EXON; FEMALE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PROTEIN ANALYSIS; SOUTHERN BLOTTING;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; COLOMBIA; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GENE DUPLICATION; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PEDIGREE;

EID: 79951579557     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318202e10b     Document Type: Article

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