Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

Clinical Genetics

Volumn 85, Issue 3, 2014, Pages 260-266

  Mur, P ^a   Pineda, M ^a   Romero, A ^b   del Valle, J ^a   Borras E ^a   Canal, A ^c   Navarro, M ^a   Brunet, J ^d   Rueda, D ^c   Ramon y Cajal T ^e   Lazaro C ^a   Caldes T ^b   Blanco, I ^a   Soto, J L ^f   Capella G ^a  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d CATALAN INSTITUTE OF ONCOLOGY   (Spain)

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

^f Hospital Universitario Dr   (Spain)

Author keywords

EPCAM; Epimutation; Founder mutation; Lynch syndrome; MSH2

Indexed keywords

EPITHELIAL CELL ADHESION MOLECULE; CELL ADHESION MOLECULE; PROTEIN MSH2; TUMOR ANTIGEN; TUMOR-ASSOCIATED ANTIGEN GA733;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COLORECTAL TUMOR; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE IDENTIFICATION; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MALE; MICROSATELLITE MARKER; MIDDLE AGED; MOLECULAR DIAGNOSIS; MOSAICISM; MOUTH TUMOR; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN METHYLATION; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; YOUNG ADULT; CHOLESTASIS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; FOUNDER EFFECT; GENE LOCUS; GENETICS; GERMLINE MUTATION; HETEROZYGOTE; MISMATCH REPAIR; PNEUMONIA; PROMOTER REGION;

ADULT; ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; CHOLESTASIS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; DNA MISMATCH REPAIR; FEMALE; FOUNDER EFFECT; GENE DELETION; GENETIC LOCI; GERM-LINE MUTATION; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; PNEUMONIA; PROMOTER REGIONS, GENETIC; SPAIN; YOUNG ADULT;

EID: 84892950499     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12152     Document Type: Article

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