Molecular Studies in Hereditary Nonpolyposis Colorectal Cancer: Microsatellite Instability and Germline Mutations

2015 ◽  
pp. 67-73
Author(s):  
Lutz Buschhausen ◽  
Martin Wehner ◽  
Christof Lamberti ◽  
Waltraut Friedl ◽  
Reiner Caspari ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Germline Mutations ◽  
Hereditary Nonpolyposis ◽  
Molecular Studies

Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study

2001 ◽  
Vol 19 (19) ◽  
pp. 3944-3950 ◽  
Author(s):  
Antonio Percesepe ◽  
Francesca Borghi ◽  
Mirco Menigatti ◽  
Lorena Losi ◽  
Moira Foroni ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Germline Mutation ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Germline Mutations ◽  
Screening Programs ◽  
High Incidence ◽  
Hereditary Nonpolyposis ◽  
Incident Cases ◽  
High Incidence Area

PURPOSE: Germline mutations in mismatch repair genes predispose to hereditary nonpolyposis colorectal cancer (HNPCC). To address effective screening programs, the true incidence of the disease must be known. Previous clinical investigations reported estimates ranging between 0.5% and 13% of all the colorectal cancer (CRC) cases, whereas biomolecular studies in Finland found an incidence of 2% to 2.7% of mutation carriers for the disease. The aim of the present report is to establish the frequency of the disease in a high-incidence area for colon cancer. PATIENTS AND METHODS: Through the data of the local CRC registry, we prospectively collected all cases of CRC from January 1, 1996, through December 31, 1997 (N = 391). Three hundred thirty-six CRC cases (85.9% of the incident cases) were screened for microsatellite instability (MSI) with six to 12 mono- and dinucleotide markers. MSI cases were subjected to MSH2 and MLH1 germline mutation analysis and immunohistochemistry; the methylation of the promoter region was studied for MLH1. RESULTS: Twenty-eight cases (8.3% of the total) showed MSI. MSI cases differed significantly from microsatellite-stable (MSS) cases for their proximal location (P < .01), high mucinous component (P < .01), and poor differentiation (P = .002). Of MSI cases studied (n = 12), only one with a family history compatible with HNPCC had a germline mutation (in MSH2). Five other patients with a family history of HNPCC (two with MSI and three with MSS tumors) did not show germline mutations. CONCLUSION: We conclude that the incidence of molecularly confirmed HNPCC (one [0.3%] of 336) in a high-incidence area for CRC is lower than in previous biomolecular and clinical estimates.

Early-Age-at-Onset Colorectal Cancer and Microsatellite Instability as Markers of Hereditary Nonpolyposis Colorectal Cancer

2003 ◽  
Vol 46 (3) ◽  
pp. 305-312 ◽  
Author(s):  
Salvatore Pucciarelli ◽  
Marco Agostini ◽  
Alessandra Viel ◽  
Roberta Bertorelle ◽  
Valentina Russo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Age At Onset ◽  
Early Age ◽  
Hereditary Nonpolyposis
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