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Microsatellite Instability and h MSH2 Gene Mutation in a Triple Cancer (Colon Cancer, Endometrial Cancer, Ovarian Cancer) Patient in Hereditary Non‐Polyposis Colorectal Cancer (HNPCC) Kindred
Author(s) -
Shigemasa Kazushi,
Yokozaki Hiroshi,
Honda Nao,
Sakata Kenichirou,
Oshita Takafumi,
Nagai Nobutaka,
Ohama Koso
Publication year - 1999
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.1999.tb01181.x
Subject(s) - medicine , microsatellite instability , colorectal cancer , cancer , endometrial cancer , msh2 , ovarian cancer , lynch syndrome , cancer syndrome , mlh1 , cancer research , mutation , oncology , dna mismatch repair , germline mutation , gene , microsatellite , genetics , biology , allele
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.