The aim of the GC-HNPCC is to improve the cinical care of patients with Lynch syndrome in Germany through a network of specialised university centers providing structured interdisciplinary care. Furthermore, GC-HNPCC collects comprehensive data on patients and families in a standardized manner, in order to promote research on Lynch syndrome.
The German Consortium for Hereditary Non-Polyposis Colorectal Cancer has been founded in 1999 by the German Cancer Aid and has been funded by the German Cancer Aid until recently. GC-HNPCC currently comprises 6 university centers providing genetic counseling, histopathological and molecular tissue analysis, genetic testing, and specific structured surveillance programs for early cancer detection at each clinical unit, all based on defined standard operating procedures.
Programme: LIFE Management Cluster
LHA ID: 7Q0CEYUJ25-4
Public web page: https://www.imise.uni-leipzig.de/institut/Projekte/Verbundprojekt-Familiaerer-Darmkrebs
Human Diseases: Lynch syndrome
Health Atlas - Local Data Hub/Leipzig PALs: No PALs for this Project
Project Coordinators: No Project coordinators for this Project
Project start date: 1st Jan 1999
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Depending on the calculated mutation probability genetic counsellors can decide whether patients should undergo further analysis of microsatellite instability and immunohistochemistry. The model is recommended for patients with an age at colorectal cancer diagnosis of 55 or younger.
"MMRpredict" is a risk prediction model for patients with colorectal cancer (Barnetson et al. 2006). It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2 and MSH6 (overall probability) ...
Creators: Christoph Engel, Silke Zachariae
Submitter: Silke Zachariae
Model type: Not specified
Model format: R package
Environment: Shiny
Organism: Homo sapiens
Human Disease: colorectal cancer
Investigations: No Investigations
Studies: No Studies
Resources: No Resources
The PREMM1,2,6 has been developed as a pretest to decide whether patients suspected of having Lynch syndrome should be tested for germline mismatch repair gene mutations. "PREMM1,2,6" is a logistic regression model. It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2 and MSH6 (for single genes and overall) based on the personal and familial cancer history of the proband (colorectal, endometrial, and other Lynch syndrome related cancers).
Creators: Silke Zachariae, Christoph Engel, Kastrinos et al.
Submitter: Silke Zachariae
Model type: Not specified
Model format: R package
Environment: Shiny
Organism: Homo sapiens
Human Disease: hereditary breast ovarian cancer syndrome
Investigations: No Investigations
Studies: No Studies
Resources: No Resources
The PREMM5 has been developed as a pretest to decide whether patients suspected of having Lynch syndrome should be tested for germline mismatch repair gene mutations. In contrast to "PREMM1,2,6" it can be used to predict mutation probabilities in unaffected index patients. "PREMM5" is a logistic regression model. It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2/EPCAM, MSH6 and PMS2 (for single genes and overall) based on the personal and familial cancer history ...
Creators: Silke Zachariae, Christoph Engel, Kastrinos et al.
Submitter: Silke Zachariae
Model type: Not specified
Model format: R package
Environment: Shiny
Organism: Homo sapiens
Human Disease: hereditary breast ovarian cancer syndrome
Investigations: No Investigations
Studies: No Studies
Resources: No Resources
Projects: LIFE Adult, LIFE - Leipzig Research Center for Civilization Diseases, GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer, GC-HNPCC - German Consortium for Hereditary Non-Polyposis Colorectal Cancer
Institutions: Institute for Medical Informatics, Statistics and Epidemiology (IMISE)
https://orcid.org/0000-0002-7247-282XExpertise: hereditary cancer, biometry, epidemiology
Projects: LHA - Leipzig Health Atlas, LIFE Adult, LIFE - Leipzig Research Center for Civilization Diseases, LIFE HNC - Head and Neck Cancer Group, LIFE Heart, MMML - Molecular mechanisms in malignant lymphoma, GLA - German Lymphoma Alliance, MMML Demonstrators - Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine, HaematoOpt - Individualized model-based managing of the next-cycle thrombopenia of CHOEP/CHOP treated patients based on platelets dynamics during the previous cycles, e:Med, GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer, GC-HNPCC - German Consortium for Hereditary Non-Polyposis Colorectal Cancer, MMML-MYC-SYS, NLP4CR - Natural Language Processing for Clinical Research, Genetical Statistics and Systems Biology, SepNet - German Competence Network Sepsis, LIFE Child, HNPCC-Sys - Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome, GGN - German Glioma Network, CAPSys - Footprints of Sepsis Framed Within Community Acquired Pneumonia in the Blood Transcriptome, CapSys - Systems Medicine of Community Acquired Pneumonia, ProstataCA, HaematoSys - Systems biology of haematopoiesis and haematopoietic neoplasia, SMITH - Smart Medical Information Technology for Healthcare, Task Force COVID-19 Leipzig, NFDI4Health, POLAR - Polypharmacy, Drug Interactions, Risks, Management of health information systems, LivSys Transfer - Transfer of the LivSys in vitro system for hepatotoxicity into application, Project Test Demonstrator, Fundus photography as tool for analysis of eyes of subjects with diabetes, Clinical Trials Leipzig, NFDI4Health - TA3 Services, STOP-NUC, SCALE-TORT, EarlyAMDRate
Institutions: Institute for Medical Informatics, Statistics and Epidemiology (IMISE)
https://orcid.org/0000-0001-8344-0658Roles: Technician
Expertise: Data Management, Data analysis, Python, Html
Projects: LIFE Adult, LIFE - Leipzig Research Center for Civilization Diseases, LIFE Heart, GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer, GC-HNPCC - German Consortium for Hereditary Non-Polyposis Colorectal Cancer
Institutions: Institute for Medical Informatics, Statistics and Epidemiology (IMISE)
https://orcid.org/0000-0003-1614-8790Projects: LIFE Heart, LIFE - Leipzig Research Center for Civilization Diseases, LIFE HNC - Head and Neck Cancer Group, SepNet - German Competence Network Sepsis, GC-HNPCC - German Consortium for Hereditary Non-Polyposis Colorectal Cancer, LIFE Child, GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer, LIFE Adult
Web page: https://www.uniklinikum-leipzig.de/einrichtungen/life
Taxonomy URI: http://purl.obolibrary.org/obo/DOID_3883
Synonyms: Hereditary Defective Mismatch Repair syndrome, COCA 1, HNPCC - hereditary nonpolyposis colon cancer, hereditary nonpolyposis colorectal neoplasm, hereditary non-polyposis colon cancer type 1, hereditary nonpolyposis colorectal cancer
Definitions: An autosomal dominant disease that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers., OMIM mapping confirmed by DO. [SN].