Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: An extreme case of a MSH2 variant and a meta-analysis

Gene

Volumn 546, Issue 2, 2014, Pages 421-424

  Woo, Hye In ^a   Woo, Young Min ^b   Kim, Sollip ^c   Lee, Seung Tae ^a   Ki, Chang Seok ^a   Kim, Jong Won ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Sungkyunkwan University   (South Korea)

^c Inje University College of Medicine   (South Korea)

Author keywords

Lynch syndrome; MLH1; MMR; MSH6; VUS

Indexed keywords

ARGININE; GLUTAMINE; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; ARTICLE; ASCENDING COLON; CASE REPORT; COLON CANCER; COLORECTAL CANCER; EXON; FAMILY HISTORY; GENE; GENE FREQUENCY; GENE MLH1; GENE MSH2; GENE MSH6; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; KOREAN (PEOPLE); MALE; MEDICAL HISTORY; MIDDLE AGED; MISSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGMOID; SINGLE NUCLEOTIDE POLYMORPHISM; STOMACH CANCER; ASCENDING COLON CANCER; DATA BASE; GENE MUTATION; GENETIC POLYMORPHISM; META ANALYSIS; MISMATCH REPAIR GENE; MLH1 GENE; MSH2 GENE; PUBLICATION; SIGMOID COLON CANCER;

LYNCH SYNDROME; MLH1; MMR; MSH6; VUS;

ALLELES; COLONIC NEOPLASMS; DATABASES, NUCLEIC ACID; DNA MISMATCH REPAIR; FEMALE; GENE FREQUENCY; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; POLYMORPHISM, GENETIC;

EID: 84903526512     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.06.027     Document Type: Article

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