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

Japanese Journal of Clinical Oncology

Volumn 33, Issue 9, 2003, Pages 486-489

  Tomita, Naohiro ^a   Fukunaga, Mutsumi ^a   Ohzato, Hiroki ^a   Tamura, Shigeyuki ^a   Sugimoto, Keishi ^a   Aihara, Tomohiko ^a   Miki, Hirofumi ^a   Takatsuka, Yuuichi ^a   Matsuura, Nariaki ^b   Iwanaga, Takeshi ^c   Fukayama, Noriko ^d   Sugano, Kokichi ^d  

^a KANSAI ROSAI HOSPITAL   (Japan)

^b Faculty of Medicine   (Japan)

^c AINO UNIVERSITY   (Japan)

^d TOCHIGI CANCER CENTER   (Japan)

Author keywords

Genetic testing; Hereditary non polyposis colorectal cancer (HNPCC); hMSH2; Microsatellite instability (MSI); Revised Amsterdam criteria

Indexed keywords

ADENINE; GENOMIC DNA; GUANINE; LEUCINE; PROTEIN MSH2; THYMINE; DNA BINDING PROTEIN; MICROSATELLITE DNA; MSH2 PROTEIN, HUMAN; ONCOPROTEIN;

ADVANCED CANCER; AGED; ANAMNESIS; ARTICLE; ASCENDING COLON; CANCER TISSUE; CASE REPORT; COLON CANCER; COLORECTAL CANCER; COLORECTAL SURGERY; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; EXON; FEMALE; GENETIC ANALYSIS; GENETIC DATABASE; GERM LINE; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; JAPAN; MICROSATELLITE INSTABILITY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; STOP CODON; COLORECTAL TUMOR; GENETICS; MUTATION; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AGED; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GERM-LINE MUTATION; HUMANS; MICROSATELLITE REPEATS; MUTS HOMOLOG 2 PROTEIN; PEDIGREE; PROTO-ONCOGENE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 19244368864     PISSN: 03682811     EISSN: 14653621     Source Type: Journal    
DOI: 10.1093/jjco/hyg082     Document Type: Article

References (3)

1. Baba S, editor, New Strategies for Treatment of Hereditary Colorectal Cancer. Churchill Livingstone Japan 1996 Tokyo, Japan.
2. Ishida H, Furukawa H, Tatsuta M, Masutani S, Imamura H, Shimizu J, et al. The novel germline mutation of hMSH2 gene in a case of a colon cancer patient without family history. Jpn J Clin Oncol 2002;32:266-9.
3. Nomura S, Sugano K, Kashiwabara H, Taniguchi T, Fukayama N, Fujita S, et al. Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. Biochem Biophys Res Commun 2000;271:120-9.