𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer

✍ Scribed by Stefan Krüger; Jens Plaschke; Steffen Pistorius; Birgit Jeske; Stephan Haas; Heike Krämer; Irene Hinterseher; Andrea Bier; Friedmar R. Kreuz; Franz Theissig; Hans D. Saeger; Hans K. Schackert

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
32 KB
Volume
19
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Germline mutations in MLH1, MSH2 and MSH
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families
✍ Young-Kyoung Shin; Seung-Chul Heo; Joo-Ho Shin; Sung-Hye Hong; Ja-Lok Ku; Byong- 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 237 KB 👁 1 views

Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes. Identification of MMR gene mutations can have direct clinical implications in counseling and management of HNPCC fam

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

Eight novel germline MLH1 and MSH2 mutat
Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain
✍ Javier Godino; Miguel de la Hoya; Eduardo Diaz-Rubio; Manuel Benito; Trinidad Ca 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 1 views

Germline mutations in the MLH1 and MSH2 genes, account for the majority of HNPCC families. We have screened such families from Spain by using DGGE analysis and subsequent direct sequencing techniques. In eight families we identified six novel MLH1 and two novel MSH2 mutations comprising one frame sh

Four novel MSH2 and MLH1 frameshift muta
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer
✍ Oana Caluseriu; Emanuela Lucci Cordisco; Alessandra Viel; Silvia Majore; Riccard 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB 👁 2 views

Ministero dell'Università e della Ricerca Scientifica (MURST) COFIN99; Ministero della Sanità (Progetti Finalizzati) Communicated by Mark H. Paalman Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by mutations of genes encoding for proteins of the mismatch repair (MMR) machinery. The maj

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