A hMLH1 genomic mutation and associated novel mRNA defects in a hereditary non-polyposis colorectal cancer family

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 503, Issue 1-2, 2002, Pages 37-42

  Tanko, Q ^a   Franklin, B ^a   Lynch, H ^a   Knezetic, J ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

hMLH1; HNPCC; Splice variant

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; PROTEIN; PROTEIN MLH1; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER FAMILY; CELL ISOLATION; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DATA BASE; DNA PURIFICATION; DNA TEMPLATE; EPSTEIN BARR VIRUS; EXON; FAMILIAL CANCER; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOBLAST; MISMATCH REPAIR; ONCOGENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PURIFICATION; RNA SPLICING; RNA TRANSCRIPTION; TUMOR SUPPRESSOR GENE; WILD TYPE;

BASE SEQUENCE; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

HUMAN HERPESVIRUS 4;

EID: 0037134764     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(02)00031-3     Document Type: Article

References (13)

1. Hereditary non-polyposis colorectal cancer (Lynch syndrome); An updated review
2. The tumor spectrum in HNPCC
3. Genetic susceptibility to non-polyposis colorectal cancer
4. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients
5. Genetic mapping of a locus predisposing to human colon colorectal cancer
6. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer
7. Mutations of two PMS homologues in hereditary non-polyposis colon cancer
8. Germ-line mutation of the hMSH6/GTPB gene in an atypical hereditary non-polyposis colorectal cancer kindred
9. Structure of the human MLH1 locus and analysis of a large hereditary non-polyposis colorectal carcinoma kindred for MLH1 mutations
10. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer
11. Majority of hMLH1 mutations responsible for hereditary non-polyposis colorectal cancer cluster at the exonic region 15-16
12. Mutation screening in the hMLH1 gene in Swedish hereditary non-polyposis colon cancer families