Article
CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.
International journal of cancer - 15 Jul 2012
Kluijt Irma, Siemerink Ester J M, Ausems Margreet G E M, van Os Theo A M, de Jong Daphne, Simões-Correia Joana, van Krieken J Han, Ligtenberg Marjolijn J, Figueiredo Joana, van Riel Els, Sijmons Rolf H, Plukker John T M, van Hillegersberg Richard, Dekker Evelien, Oliveira Carla, Cats Annemieke, Hoogerbrugge Nicoline
Abstract excerpt
CDH1 mutation carriers have a strongly increased risk of developing gastric cancer (GC) and lobular breast cancer (LBC). Clinical data of GC cases and surgical and histological data of prophylactic gastrectomies and mastectomies of all 10 Dutch CDH1 mutation families were collected. In vitro functional assays were performed to analyze the nature of the newly found missense mutation c.1748T>G (p.Leu583Arg). Ten...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.