Rectal cancer in a 13-year-old boy without a detectable germline mutation in FAP and HNPCC genes

Citation
H. Kashiwagi et al., Rectal cancer in a 13-year-old boy without a detectable germline mutation in FAP and HNPCC genes, J GASTRO, 34(3), 1999, pp. 341-344
Citations number
13
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Gastroenerology and Hepatology
Journal title
JOURNAL OF GASTROENTEROLOGY
ISSN journal
0944-1174 → ACNP
Volume
34
Issue
3
Year of publication
1999
Pages
341 - 344
Database
ISI
SICI code
0944-1174(199906)34:3<341:RCIA1B>2.0.ZU;2-U
Abstract
Hereditary non-polyposis colorectal cancer (HNPCC) is characterized by fami lial clustering and early onset. It is unclear, however, whether the early onset of colorectal cancer necessarily represents HNPCC, A 13-year-old pati ent had rectal cancer and underwent curative surgery. DNA from this patient was examined for replication errors (RER) and genes related to familial co lorectal cancer (APC, hMSH2, and hMLH1). The patient had a negative family history of colorectal cancer, did not show the RER phenotype, and had no ge rmline mutation of the APC, hMSH2, and hMLH1 genes. The present case sugges ts that an unusually young patient with colorectal cancer is not always an HNPCC proband. Observation over time, however, will be needed, as a first m utator of familial colorectal cancer could be missed.