𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2

✍ Scribed by Genuardi, Maurizio; Carrara, Stefania; Anti, Marcello; Ponz de Leòn, Maurizio; Viel, Alessandra

Book ID
110024865
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
157 KB
Volume
7
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

MLH1 and MSH2 constitutinal mutations in
MLH1 and MSH2 constitutinal mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer
✍ Maurizio Genuardi; Marcello Anti; Eugenia Capozzi; Francesca Leonardi; Mara Forn 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 French ⚖ 67 KB 👁 2 views

## Genetic diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC ) may have a significant impact on the clinical management of patients and their at-risk relatives. At present, clinical criteria represent the simplest and most useful method for the identification of HNPCC families and for

Characterization of MSH2 and MLH1 mutati
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer
✍ Alessandra Viel; Maurizio Genuardi; Eugenia Capozzi; Francesca Leonardi; Alfonso 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 331 KB 👁 2 views

Mismatch repair genes MSH2 and MLH1 are considered to be the two major genes that are responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are pred

Hereditary nonpolyposis colorectal cance
Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes
✍ Yaping Wang; Waltraut Friedl; Christof Lamberti; Matthias Jungck; Micaela Mathia 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 French ⚖ 190 KB 👁 2 views

## Abstract Hereditary nonpolyposis colorectal cancer (HNPCC) is often caused by a deficiency in DNA mismatch repair. By using conventional methods of mutation analysis, point mutations in the DNA mismatch repair genes __MSH2__ and __MLH1__ have been detected in up to 64% of patients suspected of H

Prevalence of germline mutations of MLH1
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain
✍ Trinidad Caldes; Javier Godino; Miguel de la Hoya; Iciar Garcia Carbonero; Pedro 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 French ⚖ 520 KB

## Abstract HNPCC is an autosomal dominantly inherited cancer‐susceptibility syndrome that confers an increased risk for colorectal cancer and endometrial cancer at a young age. It also entails an increased risk of a variety of other tumors, such as ovarian, gastric, uroepithelial and biliary tract