| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-110 |
DRI_Approach |
denotes |
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. |
| T2 |
111-133 |
DRI_Unspecified |
denotes |
Mutations in brief no. |
| T3 |
134-138 |
DRI_Unspecified |
denotes |
157. |
| T4 |
139-146 |
DRI_Unspecified |
denotes |
Online. |
| T5 |
147-287 |
DRI_Background |
denotes |
Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with inherited mutation in one of four DNA mismatch repair genes. |
| T6 |
288-382 |
DRI_Background |
denotes |
Somatic mutations in the same genes are also found in a subset of sporadic colorectal cancers. |
| T7 |
383-468 |
DRI_Approach |
denotes |
A defect in DNA mismatch repair results in a RER (replication error) tumor phenotype. |
| T8 |
469-565 |
DRI_Approach |
denotes |
We screened 110 archival and 11 prospectively acquired colorectal cancers for the RER phenotype. |
| T9 |
566-606 |
DRI_Background |
denotes |
A total of 22 cancers were RER-positive. |
| T10 |
607-758 |
DRI_Approach |
denotes |
RER-positive tumors were investigated for mutations in the DNA mismatch repair gene MLH1 using single-strand-conformation-polymorphism (SSCP) analysis. |
| T11 |
759-837 |
DRI_Approach |
denotes |
We identified four previously undescribed mutations in four different samples. |
| T12 |
838-1140 |
DRI_Approach |
denotes |
Three mutations were exonic: a point mutation at codon 69 (AGG-->AAG(arg-->lys]); a single base pair deletion at codon 42/43 (GCAAAATCC-->GCAAATCC) leading to a new stop codon downstream; and a point mutation at codon 757 (TAA-->TAT [termination-->tyr] which extend the MLH1 peptide by 36 ammino acids. |
| T13 |
1141-1254 |
DRI_Approach |
denotes |
The fourth mutation was a 1 base pair insertion six base pairs 5' to the start of exon 14 (tttgtttt-->tttggtttt). |
| T14 |
1255-1319 |
DRI_Approach |
denotes |
The mutations were not seen in the patients' constitutional DNA. |
| T15 |
1320-1414 |
DRI_Background |
denotes |
The somatic MLHI mutations identified appear to be causally associated with the RER phenotype. |