Article
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.
Journal of medical genetics - 1 Jul 2004
Brooks-Wilson A R, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield Y S N, Jeyes J, Schinas J, Bacani J, Kelsey M, Ferreira P, MacGillivray B, MacLeod P, Micek M, Ford J, Foulkes W, Australie K, Greenberg C, LaPointe M, Gilpin C, Nikkel S, Gilchrist D, Hughes R, Jackson C E, Monaghan K G, Oliveira M J, Seruca R, Gallinger S, Caldas C, Huntsman D
Abstract excerpt
BACKGROUND: Mutations in the E-cadherin (CDH1) gene are a well documented cause of hereditary diffuse gastric cancer (HDGC). Development of evidence based guidelines for CDH1 screening for HDGC have been complicated by its rarity, variable penetrance, and lack of founder mutations. METHODS: Forty three new gastric cancer (GC) families were ascertained from multiple sources. In 42 of these families at least one...
Topics
- Adolescent
- Adult
- Aged
- Cadherins
- Child
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Genetic Testing