PubMed_ArguminSci  

PubMed:11317354 JSONTXT 7 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T1 130-338 DRI_Background denotes DNA mismatch repair is of considerable scientific and medical importance because of its essential role in maintaining genomic integrity, and its association with hereditary non-polyposis colon cancer (HNPCC).
T2 339-470 DRI_Background denotes Germline mutations in five mismatch repair genes (MLH1, MSH2, PMS1, PMS2, and MSH6) have been associated with HNPCC susceptibility.
T3 471-545 DRI_Approach denotes Our laboratory recently identified MLH3, a novel DNA mismatch repair gene.
T4 546-717 DRI_Approach denotes We screened the MLH3 coding sequence in 60 probands with increased genetic risk factors for colorectal cancer susceptibility and no mutations in the other candidate genes.
T5 718-765 DRI_Approach denotes No definite MLH3 germline mutations were found.
T6 766-903 DRI_Approach denotes We subsequently screened 36 colon tumors, and discovered an appreciable frequency of somatic MLH3 coding mutations in MSI-H tumors (25%).
T7 904-972 DRI_Outcome denotes In four of six tumors, evidence of biallelic inactivation was noted.
T8 973-1108 DRI_Background denotes Furthermore, MLH3 nonsense mutations were identified in two of 12 microsatellite stable (MSS) tumors with 14q24 loss of heterozygosity.
T9 1109-1338 DRI_Outcome denotes While our analyses do not exclude the existence of germline MLH3 mutations in patients with increased genetic risk factors for colorectal cancer susceptibility, they suggest such mutations are uncommon in this patient population.
T10 1339-1508 DRI_Outcome denotes The finding of an appreciable frequency of somatic MLH3 mutations is consistent with a possible role for this gene in the progression of colorectal cancer tumorigenesis.