The novel germline mutation of hMSH2 gene in a case of a hereditary non-polyposis colorectal cancer (HNPCC) patient who meets the revised Amsterdam criteria.
Hereditary non-polyposis colorectal cancer (HNPCC) is a very important clinical entity in oncology. In order to identify HNPCC, the international diagnostic criteria named "Amsterdam criteria" have been used. In this report, we present a case of an HNPCC patient who met the revised Amsterdam criteria after the sequential history taking in which a novel germline mutation of hMSH2 gene was detected by genetic testing. The proband was a 69-year-old Japanese female who was admitted to our hospital with a diagnosis of advanced ascending colon cancer. Microsatellite instability (MSI) analysis revealed high MSI in the resected tumor tissue. PCR/direct sequencing analysis of the genomic DNA revealed the TTG(Leu) to TAG(Stop) nonsense mutation at codon 302 in exon 5 of the hMSH2 gene, which was considered to be a pathogenic mutation. According to the Human Mutation Database and International Collaborative Group on HNPCC (ICG-HNPCC) Database, this type of nonsense mutation is the first report in the hMSH2 gene.
Tomita
Naohiro
N
Department of Surgery, Kansai Rosai Hospital, 3-1-69 Inaba-so, Amagasaki, Hyogo 660-8511, Japan. ntomita@kanrou.net
Fukunaga
Mutsumi
M
Ohzato
Hiroki
H
Tamura
Shigeyuki
S
Sugimoto
Keishi
K
Aihara
Tomohiko
T
Miki
Hirofumi
H
Takatsuka
Yuuichi
Y
Matsuura
Nariaki
N
Iwanaga
Takeshi
T
Fukayama
Noriko
N
Sugano
Kokichi
K
D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D018895:Microsatellite Repeats; D051718:MutS Homolog 2 Protein; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein