Comprehensive functional assessment of MLH1 variants of unknown significance

Human Mutation

Volumn 33, Issue 11, 2012, Pages 1576-1588

  Borràs, Ester ^a   Pineda, Marta ^a   Brieger, Angela ^b   Hinrichsen, Inga ^b   Gómez, Carolina ^a   Navarro, Matilde ^a   Balmaña, Judit ^c   Ramón y Cajal, Teresa ^d   Torres, Asunción ^e   Brunet, Joan ^f   Blanco, Ignacio ^a   Plotz, Guido ^b   Lázaro, Conxi ^a   Capellá, Gabriel ^a  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e HOSPITAL UNIVERSITARI SANT JOAN DE REUS   (Spain)

^f CATALAN INSTITUTE OF ONCOLOGY   (Spain)

Author keywords

Functional characterization; Lynch syndrome; MLH1; Variants of unknown significance

Indexed keywords

MESSENGER RNA; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1;

ADULT; AGED; ARTICLE; CELLULAR DISTRIBUTION; CLASSIFICATION; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; FUNCTIONAL ASSESSMENT; GENE CONTROL; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; HUMAN CELL; MALE; MISMATCH REPAIR; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PATIENT IDENTIFICATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA PROCESSING; RNA STABILITY; VARIANTS OF UNKNOWN SIGNIFICANCE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COMPUTATIONAL BIOLOGY; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC VARIATION; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MODELS, ANATOMIC; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, MESSENGER;

EID: 84867456662     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22142     Document Type: Article

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