Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients

1995 ◽  
Vol 73 (10) ◽  
Author(s):  
M. Miyaki ◽  
M. Konishi ◽  
M. Muraoka ◽  
R. Kikuchi-Yanoshita ◽  
K. Tanaka ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Dna Analysis ◽  
Germ Line ◽  
Hereditary Nonpolyposis ◽  
Germ Line Mutations ◽  
Screening And Diagnosis

Mutations of hMLH1 and hMSH2 in Patients With Suspected Hereditary Nonpolyposis Colorectal Cancer: Correlation With Microsatellite Instability and Abnormalities of Mismatch Repair Protein Expression

2002 ◽  
Vol 20 (5) ◽  
pp. 1203-1208 ◽  
Author(s):  
Mario Scartozzi ◽  
Francesca Bianchi ◽  
Saverio Rosati ◽  
Eva Galizia ◽  
Annalisa Antolini ◽  
...  
Keyword(s):  
Gene Expression ◽  
Colorectal Cancer ◽  
Protein Expression ◽  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Germ Line ◽  
Missense Mutations ◽  
Hereditary Nonpolyposis ◽  
Germ Line Mutations

PURPOSE: The relationship between germ-line mutations of hMSH2 and hMLH1, microsatellite instability (MSI), and loss of DNA mismatch repair (MMR) gene expression were studied to formulate an effective selection protocol for patients with suspected hereditary nonpolyposis colorectal cancer who should be offered genetic testing. PATIENTS AND METHODS: Patients eligible for germ-line analysis of hMLH1 and hMSH2 were selected. Tumor specimens were obtained to assess MSI and loss of MMR gene expression. RESULTS: Among 37 patients who participated in the study, two hMSH2 and two hMLH1 missense mutations (11%) were detected, none of which was found in a panel of 60 healthy volunteers. High MSI was found in five tumors (19%) and low MSI in 10 tumors (39%); 12 tumors (46%) were microsatellite stable. Four tumors demonstrated loss of hMLH1, and three tumors demonstrated loss of hMSH2 protein expression. CONCLUSION: No relationship was found between MMR gene mutations and MSI; low or no MSI was found in the four patients with germ-line mutations, and none of the five patients with high MSI demonstrated abnormalities of MMR genes. On the contrary, loss of hMLH1 or hMSH2 expression was found in the tumors from three of the four patients demonstrating germ-line mutations. These data suggest that germ-line mutations of the MMR gene can occur in people with MSI-negative tumors. Sensitive clinical criteria and the study of MMR gene expression may be useful to identify this subset of patients.

Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer

2005 ◽  
Vol 117 (7-8) ◽  
pp. 269-277 ◽  
Author(s):  
Brigitte Wolf ◽  
Silvia Henglmueller ◽  
Elisabeth Janschek ◽  
Denisa Ilencikova ◽  
Carmen Ludwig-Papst ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Germ Line ◽  
Hereditary Nonpolyposis

The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer

2014 ◽  
Vol 133 (3) ◽  
pp. 526-530 ◽  
Author(s):  
Zohreh Ketabi ◽  
Anne-Marie Gerdes ◽  
Berit Mosgaard ◽  
Steen Ladelund ◽  
Inge Bernstein
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis
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