𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer

✍ Scribed by Karl Heinimann; Rodney J. Scott; Jean-Marie Buerstedde; Walter Weber; Karl Siebold; Michèle Attenhofer; Hansjakob Müller; Zuzana Dobbie

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
109 KB
Volume
85
Category
Article
ISSN
0008-543X

No coin nor oath required. For personal study only.

✦ Synopsis

BACKGROUND.

Hereditary nonpolyposis colorectal cancer (HNPCC) is linked genetically to mutations in DNA mismatch repair (MMR) genes. Because a deficiency in MMR does not predict a specific phenotype, the original selection criteria may be too restrictive in identifying additional families. The current study was performed to determine whether a relaxation of the Amsterdam criteria (AC) could be applied to identify more families associated with DNA MMR.

📜 SIMILAR VOLUMES

Evaluation of enzymatic mutation detecti
Evaluation of enzymatic mutation detection™ in hereditary nonpolyposis colorectal cancer
✍ Robyn Otway; Natasha Tetlow; June Hornby; Maija Kohonen-Corish 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 242 KB 👁 2 views

In hereditary nonpolyposis colorectal cancer (HNPCC), the majority of reported mutations are dispersed throughout the 35 exons of the two principal susceptibility genes, MLH1 and MSH2, and because of this complexity, rapid mutation screening methods are required. The aim of this study was to evaluat

Hereditary nonpolyposis colorectal cance
Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria
✍ Barbara Quaresima; Cristina Grandinetti; Francesco Baudi; PierFrancesco Tassone; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 104 KB 👁 2 views

Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat

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

Detection of APC mutations in stool DNA
Detection of APC mutations in stool DNA of patients with colorectal cancer by HD-PCR
✍ Rainer Deuter; Oliver Müller 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 2 views

In most cases the analysis of DNA mutations in presence of a high excess of wild type DNA fail because of the low sensitivity of the performed method for mutation detection. Here we describe the new high-sensitive and non-radioactive HD-PCR method (for HeteroDuplex-PCR). In opposite to the conventio

Mean age of tumor onset in hereditary no
Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes
✍ Valeria Pensotti; Paolo Radice; Silvano Presciuttini; Daniele Calistri; Isabella 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 2 views

Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLH1, and GTBP, by using a combination of different methods that included an in vitro synthesized protein assay, single-stran