Microsatellite Instability and hMSH2 Gene Mutation in a Triple Cancer (Colon Cancer, Endometrial Cancer, Ovarian Cancer) Patient in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Kindred

A patient who had triple cancer (colon cancer, endometrial cancer, and ovarian cancer) in HNPCC kindred is reported. Her family history revealed the occurrence of colon cancer in her paternal aunt and in two cousins, fulfilling the minimum HNPCC criteria. Microsatellite instability analysis revealed...

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Bibliographic Details
Published in:The journal of obstetrics and gynaecology research 1999-12, Vol.25 (6), p.381-386
Main Authors: Shigemasa, Kazushi, Yokozaki, Hiroshi, Honda, Nao, Sakata, Kenichirou, Oshita, Takafumi, Nagai, Nobutaka, Ohama, Koso
Format: Article
Language:English
Subjects:
Adenocarcinoma - genetics
Adenocarcinoma - pathology
Adult
Base Pair Mismatch
Colonic Neoplasms - genetics
Colonic Neoplasms - pathology
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - pathology
DNA-Binding Proteins
Endometrial Neoplasms - genetics
Endometrial Neoplasms - pathology
Female
Germ-Line Mutation
hMSH2
HNPCC
Humans
microsatellite instability
Microsatellite Repeats
MutS Homolog 2 Protein
Ovarian Neoplasms - genetics
Ovarian Neoplasms - pathology
Pedigree
Proto-Oncogene Proteins - genetics
triple cancer
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Summary:A patient who had triple cancer (colon cancer, endometrial cancer, and ovarian cancer) in HNPCC kindred is reported. Her family history revealed the occurrence of colon cancer in her paternal aunt and in two cousins, fulfilling the minimum HNPCC criteria. Microsatellite instability analysis revealed replication error (RER)' in all cancer lesions at 2 microsatellite loci (D1S191, BAT 40). SSCP analysis suggested germline mutation in exon 2 of the hMSH2 gene. This case showed the importance of complete family‐history investigations to identify HNPCC patients. In the near future, definitive diagnosis of HNPCC will be possible on the basis of DNA studies.
ISSN:1341-8076
1447-0756
DOI:10.1111/j.1447-0756.1999.tb01181.x