Loading...
Please wait, while we are loading the content...
Similar Documents
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.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Tomita, Naohiro Fukunaga, Mutsumi Ohzato, Hiroki Tamura, Shigeyuki Sugimoto, Keishi Aihara, Tomohiko Miki, Hirofumi Takatsuka, Yuuichi Matsuura, Nariaki Iwanaga, Takeshi Fukayama, Noriko Sugano, Kokichi |
| Copyright Year | 2003 |
| Abstract | 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. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://jjco.oxfordjournals.org/content/33/9/486.full.pdf |
| Alternate Webpage(s) | https://watermark.silverchair.com/hyg082.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAiowggImBgkqhkiG9w0BBwagggIXMIICEwIBADCCAgwGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQM80DuGuzJlBCJXxBrAgEQgIIB3cjYIcrFiPh8wF4cx4tq540WORqozISz7MM6l_nUX_kcmFMkOhfCrQB40C7fpXoxmL2ElhN5nlX52FIWnSBCVeBDAdKgl3VpW6CUk2T0NMV2kZWrjMQg-VFFd1KAdFGWrzNhPcmVzHG2SdH8iGvT8deY8cpoTYFxhw1U0NrhSJuyE6l878gFakEPcNg6eqWS5Hks8y0mXdUqcl0JZZguDAzf2syfLq_6pPtMB29qctimeYgS3lGK53aQoqZuPg6OPxk_PVAvrYF0DpAAlU8-0aTPT8IzyahIOfek794PGdJtHAVmUwjIMJTo713Ob8busgS6tuazLyjpqoVxnwYpI0t0SSDFjBx1-0cHPtBDEDdxYJRuLXgG6vaZYZN28HWZFfVZ-fkYrJKcGbJL5gz0trbomzyvsf9oC7_AbgU-vZI2Hf8ygTbNh5AGoIyozLfvqNcCDRayiC2FguNXAMo2DddWf8zIRLRc47IbbLUCYo3QEGnHSEri3ZDbx5NY8Y6sWd32O90FrfKTZp0OK3lj4Nuhyt6H36Ugdsh66u_Phq5sD-wo4h-4Qor_Lz4YMiLVOE365Z3q9j_f0xOL2uB_G8BqjcRgL_hiihV0MqoFT0RKPVAa8SOZxdKN3Z__PQ |
| PubMed reference number | 14594944v1 |
| Volume Number | 33 |
| Issue Number | 9 |
| Journal | Japanese journal of clinical oncology |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | APC gene Amsterdam Criteria Ascending colon Colon Carcinoma DNA Mismatch Repair Protein MSH2, human Direct Sequencing Genetic screening method Germ-Line Mutation Interchromatin granule Microsatellite Instability Name Neoplasms Nonsense mutation Patients Revision procedure diagnostic criteria polyposis tumor tissue |
| Content Type | Text |
| Resource Type | Article |
