Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

American Journal of Human Genetics

Volumn 99, Issue 2, 2016, Pages 337-351

  Adam, Ronja ^a   Spier, Isabel ^a   Zhao, Bixiao ^b   Kloth, Michael ^c   Marquez, Jonathan ^b   Hinrichsen, Inga ^d   Kirfel, Jutta ^a   Tafazzoli, Aylar ^a   Horpaopan, Sukanya ^a,e   Uhlhaas, Siegfried ^a   Stienen, Dietlinde ^a   Friedrichs, Nicolaus ^c   Altmüller, Janine ^c,f   Laner, Andreas ^g,h   Holzapfel, Stefanie ^a   Peters, Sophia ^a   Kayser, Katrin ^a   Thiele, Holger ^f   Holinski Feder, Elke ^g,h   Marra, Giancarlo ⁱ   Kristiansen, Glen ^a   Nöthen, Markus M ^a   Büttner, Reinhard ^c   Möslein, Gabriela ^j   Betz, Regina C ^a   Brieger, Angela ^d   Lifton, Richard P ^b   Aretz, Stefan ^a   more..

^a UNIVERSITY OF BONN   (Germany)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF COLOGNE   (Germany)

^d GOETHE UNIVERSITY   (Germany)

^e NARESUAN UNIVERSITY   (Thailand)

^f UNIVERSITY OF COLOGNE   (Germany)

^g UNIVERSITY OF MUNICH   (Germany)

^h Medical Genetic Center   (Germany)

ⁱ UNIVERSITY OF ZURICH   (Switzerland)

^j UNIVERSITY OF WITTEN HERDECKE   (Germany)

more..

Author keywords

adenomatous polyposis; candidate genes; exome sequencing; familial colorectal cancer; hereditary tumor syndromes; massive parallel sequencing; mismatch repair

Indexed keywords

DINUCLEOTIDE; DNA; NUCLEAR PROTEIN; NUCLEOTIDE DERIVATIVE; PROTEIN MSH3; RNA; TETRANUCLEOTIDE; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; MISMATCH REPAIR PROTEIN PMS2; MSH3 PROTEIN, HUMAN; PMS2 PROTEIN, HUMAN;

ADENOMA; ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; ASTROCYTOMA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CARCINOGENESIS; COLORECTAL ADENOMATOUS POLYPOSIS; COLORECTAL CANCER; COLORECTAL POLYP; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DNA STRUCTURE; DUODENUM TUMOR; EARLY CANCER; EXOME; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; GERMLINE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; PEDIGREE; PRIORITY JOURNAL; SIBLING; STOMACH CANCER; TETRANUCLEOTIDE REPEAT; CASE REPORT; COLON POLYPOSIS; COLORECTAL TUMOR; DEFICIENCY; DNA MUTATIONAL ANALYSIS; GENETICS; MALE; MIDDLE AGED; PRESCHOOL CHILD; RECESSIVE GENE;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; ALLELES; CHILD, PRESCHOOL; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXOME; FEMALE; GENES, RECESSIVE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MISMATCH REPAIR ENDONUCLEASE PMS2; PEDIGREE;

EID: 84979790123     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.015     Document Type: Article

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