A novel Q562X mutation identified in the hMLH1 gene in a Slovenian patient with hereditary nonpolyposis colorectal cancer

Human Heredity

Volumn 50, Issue 2, 2000, Pages 140-141

  Potočnik, Uroš ^a   Glavač, Damjan ^a   Golouh, Rastko ^b   Ravnik Glavač, Metka ^a,c,d  

^a INSTITUTE OF PATHOLOGY   (Slovenia)

^b INSTITUTE OF ONCOLOGY   (Slovenia)

^c UNIVERSITY OF LJUBLJANA   (Slovenia)

^d UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

Hereditary nonpolyposis colorectal cancer; hMLH1 gene; HNPCC; Microsatellite instability; Nonsense mutation; Slovenian origin; SSCA HA analysis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; COLORECTAL CANCER; CONTROLLED STUDY; DNA REPAIR; FAMILIAL CANCER; FEMALE; GENE FREQUENCY; HUMAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; ONCOGENE; STOP CODON;

EID: 0344146528     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022902     Document Type: Article

References (3)

1. Potočnik U, Glavač D, Golouh R, Ravnik-Glavač M: Evaluation of microsatellite markers for efficient assessment of high microsatellite instabile colorectal tumors. Pflügers Arch, in press.
2. Glavač D, Dean M: Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 1993;2:356-367.
3. Kolodner RD, Hall NR, Lipford J, et al: Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for MLH1 mutations. Cancer Res 1995;55:242-248.