A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage

Human Pathology

Volumn 45, Issue 10, 2014, Pages 2162-2167

  Loconte, Daria Carmela ^a   Patruno, Margherita ^a   Lastella, Patrizia ^b   Di Gregorio, Carmela ^c   Grossi, Valentina ^d   Forte, Giovanna ^e   Ingravallo, Giuseppe ^a   Varvara, Dora ^a   Bagnulo, Rosanna ^a   Simone, Cristiano ^a,d   Resta, Nicoletta ^a   Stella, Alessandro ^a  

^a UNIVERSITY OF BARI   (Italy)

^b POLICLINICO   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d NATIONAL CANCER INSTITUTE GIOVANNI PAOLO II   (Italy)

^e NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

Author keywords

Lynch syndrome; Mismatch repair; MSH2; MSH6; Second hit; Variants of unknown significance

Indexed keywords

HMSH6 PROTEIN; PROTEIN; PROTEIN MSH2; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MSH2 PROTEIN, HUMAN; PROTEIN BINDING;

ADULT; ADVANCED CANCER; ARTICLE; CANCER STAGING; CASE REPORT; COLON ADENOCARCINOMA; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MISMATCH REPAIR; MSH2 GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PROTEIN BINDING; PROTEIN DEPLETION; GENETICS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; IMMUNOPRECIPITATION; METABOLISM; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; PEDIGREE; WESTERN BLOTTING;

ADULT; BASE SEQUENCE; BLOTTING, WESTERN; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA-BINDING PROTEINS; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTS HOMOLOG 2 PROTEIN; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN BINDING;

EID: 84908210130     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2014.05.019     Document Type: Article

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