Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype

Cancer Prevention Research

Volumn 4, Issue 10, 2011, Pages 1546-1555

  Pérez Cabornero, Lucia ^a   Flores, Ester Borrás ^b   Sanz, Mar Infante ^a   Sampedro, Eladio Velasco ^a   Becares, Alberto Acedo ^a   Aras, Enrique Lastra ^e   González, Jorge Cuevas ^e   Riu, Marta Pineda ^c   Asensio, Teresa Ramón Y Cajal ^d   Munar, Gabriel Capellá ^c   Pino, Cristina Miner ^a   Domínguez, Mercedes Durán ^a  

^a UNIVERSITY OF VALLADOLID   (Spain)

^b Hospital de Medina del Campo   (Spain)

^c BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

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

^e HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; ALLELE; ALU SEQUENCE; ARTICLE; CAPILLARY ELECTROPHORESIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; EXON; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE REARRANGEMENT; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETERODUPLEX ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALU ELEMENTS; BASE SEQUENCE; CASE-CONTROL STUDIES; COHORT STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOUNDER EFFECT; GENE REARRANGEMENT; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTS HOMOLOG 2 PROTEIN; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID; YOUNG ADULT;

EID: 80053902876     PISSN: 19406207     EISSN: 19406215     Source Type: Journal    
DOI: 10.1158/1940-6207.CAPR-11-0227     Document Type: Article

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