Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

Clinical Genetics

Volumn 87, Issue 6, 2015, Pages 507-516

  Ponti, G ^a   Castellsague E ^b,c   Ruini, C ^a   Percesepe, A ^a   Tomasi, A ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b MCGILL UNIVERSITY   (Canada)

^c CATALAN INSTITUTE OF ONCOLOGY   (Spain)

Author keywords

Founder mutation; Genetic anticipation phenomenon; HNPCC; Lynch syndrome; MLH1; MMR; MSH2; MSH6; Muir Torre syndrome; PMS2

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; CELL ADHESION MOLECULE; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR ANTIGEN; TUMOR-ASSOCIATED ANTIGEN GA733;

ALLELE; CANCER SUSCEPTIBILITY; CANCER TEST; EPIMUTATION; EXON; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GERMLINE MUTATION; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HIGH THROUGHPUT SEQUENCING; HUMAN; INDEL MUTATION; MISMATCH REPAIR; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; REVIEW; RNA PROCESSING; UNITED STATES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DISEASE MANAGEMENT; FOUNDER EFFECT; GENETIC EPIGENESIS; GENETICS; HEALTH SURVEY; JEW; MUTATION; POPULATION GENETICS; PROGNOSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DISEASE MANAGEMENT; DNA MISMATCH REPAIR; EPIGENESIS, GENETIC; FOUNDER EFFECT; GENETICS, POPULATION; GERM-LINE MUTATION; HUMANS; JEWS; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; POPULATION SURVEILLANCE; PROGNOSIS;

EID: 84928739852     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12529     Document Type: Review

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