A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Nature Genetics

Volumn 47, Issue 6, 2015, Pages 668-671

  Weren, Robbert D A ^a   Ligtenberg, Marjolijn J L ^a   Kets, C Marleen ^a   De Voer, Richarda M ^a   Verwiel, Eugène T P ^a   Spruijt, Liesbeth ^a   Van Zelst Stams, Wendy A G ^a   Jongmans, Marjolijn C ^a   Gilissen, Christian ^a   Hehir Kwa, Jayne Y ^a   Hoischen, Alexander ^a   Shendure, Jay ^b   Boyle, Evan A ^b   Kamping, Eveline J ^a   Nagtegaal, Iris D ^a   Tops, Bastiaan B J ^a   Nagengast, Fokko M ^c   Geurts Van Kessel, Ad ^a   Van Krieken, J Han J M ^a   Kuiper, Roland P ^a   Hoogerbrugge, Nicoline ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF WASHINGTON   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NTHL1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; DEOXYRIBONUCLEASE (PYRIMIDINE DIMER); NTHL1 PROTEIN, HUMAN; STOP CODON;

ADENOMATOUS POLYP; ADOLESCENT; ADULT; ARTICLE; CANCER GROWTH; CHILD; COLON ADENOMA; COLORECTAL ADENOMA; COLORECTAL CANCER; COLORECTAL CARCINOMA; COMPARATIVE STUDY; CONSANGUINITY; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA DAMAGE; DNA REPAIR; DUODENUM CANCER; EXCISION REPAIR; EXOME; FAMILY; FAMILY HISTORY; FIRST DEGREE RELATIVE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GERMLINE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; PRECANCER; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SOMATIC MUTATION; CASE CONTROL STUDY; COLON POLYPOSIS; FEMALE; GENETIC ASSOCIATION; GENETICS; HOMOZYGOTE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; STOP CODON;

ADENOMATOUS POLYPOSIS COLI; CASE-CONTROL STUDIES; CODON, NONSENSE; DEOXYRIBONUCLEASE (PYRIMIDINE DIMER); DNA MUTATIONAL ANALYSIS; DNA REPAIR; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; MIDDLE AGED; PEDIGREE;

EID: 84930084903     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3287     Document Type: Article

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