|Title / Titel||Evaluation of genetic and biochemical traits in HNPCC families|
|Abstract (PDF, 14 KB)|
|Summary / Zusammenfassung||Mutations in mismatch repair (MMR) genes are linked with a common form of cancer predisposition syndrome, hereditary non-polyposis colon cancer (HNPCC). Individuals who inherit mutations in one of five MMR genes are predisposed to early-onset cancer of the colon, endometrium, ovary and, in some cases, also skin cancer. Identification of individuals at risk facilitates precocious diagnosis of the disease and increases the chances of early therapeutic intervention, which is associated with significantly increased long-term survival of the patients. The scope of this research program is to identify as many Swiss HNPCC families as possible, and to set up a genetic screening program in order to identify at-risk individuals, who will then be placed under close clinical surveillance. They will also be enrolled in genetic counselling programs. A further aim of the project is to develop a facile diagnostic test, which would reduce time, complexity and cost of mutation detection.
|Publications / Publikationen||Di Pietro M., Marra G., Cejka P, Stojic L., Menigatti M., Cattaruzza MS. and Jiricny J.
Mismatch repair-dependent transcriptome changes in human cells treated with the methylating agent MNNG
Cancer Research, 63, 8158-66, 2003Marra G, Jiricny J.
Multiple colorectal adenomas--is their number up?
N Engl J Med., 348, 845-7, 2003Weitere Informationen
|Keywords / Suchbegriffe||DNA repair, mismatch repair, microsatellite instability, HNPCC, drug resistance, colon cancer|
|Project leadership and contacts /
Projektleitung und Kontakte
|Other links to external web pages||http://www.imr.uzh.ch|
|Funding source(s) /
|Universität Zürich (position pursuing an academic career), SNF (Personen- und Projektförderung)
|In collaboration with /
In Zusammenarbeit mit
|Duration of Project / Projektdauer||Oct 1998 to Jul 2005|