Methods & Phenotypes

eClaus

Claus models breast cancer in terms of a single, rare, highly penetrant gene.The extended version of the Claus model (eCLAUS) as implemented in Cyrillic 2.12 moreover includes ovarian cancer occurrence in families.

GC-HBOC Mutation Frequency Explorer

GC-HBOC-MFE characterises the mutation prevalences in different family constellations with breast and ovarian cancers (BCOC) for different BCOC related genes (e.g. BRCA1, BRCA2, CHEK2, RAD51C,...) . Data stem from about 40.000 families that were gathered since 1996 in a clinical setting by the GC-HBOC, comprising full pedigrees with cancer status of all individual members at the time of first counselling, and the mutation status of the index patient.

MMRpredict

MMRpredict is a risk prediction model for patients with colorectal cancer only (Barnetson et al. 2006). It calculates the risk for having a mutation in MLH1, MSH2 and MSH6 (combined) based on the history of colorectal and endometrium cancers in the family (stage 1).

Network of discovered loci, eQTLs and metabolites

This is an interactive version of figure 4 of the publication „Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood“.

PREMM1,2,6

The PREMM1,2,6 estimates the risk of having a mutation in MLH1, MSH2 and MSH6 based on the cancer history of the index patient and its family for families with Lynch-related cancers.