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).

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.

PREMM5

The PREMM5 estimates the risk of having a mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM based on the cancer history of the index patient and its family for families with Lynch-related cancers.