Functional analysis of MSH2 unclassified variants found in suspected lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

Journal of Medical Genetics

Volumn 51, Issue 4, 2014, Pages 245-253

  Wielders, Eva Al ^a   Hettinger, Jan ^a,b   Dekker, Rob ^a,c   Marleen Kets, C ^d   Ligtenberg, Marjolijn J ^d   Mensenkamp, Arjen R ^d   van den Ouweland, Ans M W ^e   Prins, Judith ^e   Wagner, Anja ^e   Dinjens, Winand N M ^e   Dubbink, Hendrikus Jan ^e   van Hest, Liselotte P ^f   Menko, Fred ^f   Hogervorst, Frans ^a   Verhoef, Senno ^a   Te Riele, Hein ^a  

^a NETHERLANDS CANCER INSTITUTE   (Netherlands)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; PROTEIN MSH2; PROTEIN MSH3; PROTEIN MSH6;

ADULT; AGED; ANIMAL CELL; ANIMAL MODEL; ARTICLE; CODON; EMBRYONIC STEM CELL; FEMALE; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN CELL; MALE; MIDDLE AGED; MISMATCH REPAIR; MISSENSE MUTATION; MOUSE; NONHUMAN; PATHOGENICITY; PRIORITY JOURNAL; WESTERN BLOTTING;

CANCER: COLON; GENETIC SCREENING/COUNSELLING; LYNCH SYNDROME; MISMATCH REPAIR; MOLECULAR GENETICS;

ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CELL LINE; CODON; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COMPUTER SIMULATION; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; EMBRYONIC STEM CELLS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTS HOMOLOG 2 PROTEIN; PEDIGREE;

EID: 84896526547     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101987     Document Type: Article

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