𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain

✍ Scribed by Javier Godino; Miguel de la Hoya; Eduardo Diaz-Rubio; Manuel Benito; Trinidad Caldés

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
35 KB
Volume
18
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

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 shift mutation (c.1420 del C), two missense mutations (L622H and R687W), two splice site mutations (c.1990-1 G>A and c.453+2 T>C and one nonsense mutation (K329X) in the MLH1 gene as well as two frame shift mutations (c.1979-1980 del AT and c.1704-1705 del AG) in the MSH2 gene. Our analysis contributes to the further characterization of the mutational spectrum of MLH1 and MSH2 genes in HNPCC families.

📜 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