rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
18
|
pubmed:dateCreated |
1997-10-20
|
pubmed:databankReference |
|
pubmed:abstractText |
A germ-line mutation of hMSH6 (also called GTBP) was found in a hereditary nonpolyposis colorectal cancer (HNPCC)-like patient in whom germ-line mutations of hMSH2, hMSH3, or hMLH1 had not been detected. The patient had rectal cancer and two colon adenomas at 62 years of age and a weak family history of gastrointestinal tumors, indicating atypical HNPCC. Somatic mutations of hMSH6 were observed in three colorectal tumors from the patient, indicating two-hit inactivation. Microsatellite instabilities at mononucleotide repeats were detected in all three tumors. These data suggest that hMSH6 is responsible for tumorigenesis in atypical HNPCC.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Sep
|
pubmed:issn |
0008-5472
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:day |
15
|
pubmed:volume |
57
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
3920-3
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:9307272-Adenoma,
pubmed-meshheading:9307272-Base Sequence,
pubmed-meshheading:9307272-Colon,
pubmed-meshheading:9307272-Colorectal Neoplasms, Hereditary Nonpolyposis,
pubmed-meshheading:9307272-DNA-Binding Proteins,
pubmed-meshheading:9307272-Female,
pubmed-meshheading:9307272-Genetic Markers,
pubmed-meshheading:9307272-Germ-Line Mutation,
pubmed-meshheading:9307272-Humans,
pubmed-meshheading:9307272-Intestinal Mucosa,
pubmed-meshheading:9307272-Male,
pubmed-meshheading:9307272-Microsatellite Repeats,
pubmed-meshheading:9307272-Middle Aged,
pubmed-meshheading:9307272-Molecular Sequence Data,
pubmed-meshheading:9307272-Pedigree
|
pubmed:year |
1997
|
pubmed:articleTitle |
Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.
|
pubmed:affiliation |
Department of Hygiene and Oncology, Tokyo Medical and Dental University School of Medicine, Japan.
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|