APC, BRCA1, BRCA2, CDH1, CDKN2A_Leiden, MLH1, MSH2, MSH6, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, TP53
BRCA1_Japan, BRCA2_Japan, BRCA1_missense, BRCA1_trunc, BRCA2_missense, BRCA2_trunc, BRCA1:p.R1699Q, ATM:c.7271T>G, CHEK2:c.1100delC
This web tool provides models for BRCA1,BRCA2,CDH1,MLH1,MSH2,MSH6,PMS2,NF1,PALB2,PTEN,RAD51C,RAD51D,TP53,APC,CDKN2A,POLD1,POLE.
ATM, CHEK2, and MEN1 are associated with moderate (<2.5 fold) cancer risks and are inappropriate for cosegregation.
To use the provided model, skip this part. The above Gene Symbol must be one of the supported genes.
To use your model, do one of the following:
Upload a Relative Risk File :
Upload a Penetrance File:
Allele Frequency: (Default is 0.0001.)
Grid search: (Search for the best relative risk model. no/5/10/20. Default is no.)
Break loops: (Input yes will let the program breaks loops for you. Default is no.)
Draw: (Input yes will draw pedigrees, keeping pedigree structures on the server for 30 days. Default is no.)
Population: (Default is UK.)
Year range: (1993-1997, 1998-2002, 2003-2007, or 2008-2012. Default is 1998-2002.)
Variant of interest: (when your pedigree file contains more than one genetic variant)