The CanRisk Web Tool incorporates the new version of BOADICEA v6, the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm.
BOADICEA is a comprehensive model that can be used to calculate the future risks of developing breast or ovarian cancer using information on family history, lifestyle/hormonal risk factors, rare pathogenic variants in moderate and high risk breast/ovarian cancer susceptibility genes, common breast/ovarian cancer genetic susceptibility variants (Polygenic Risk Scores) and mammographic density. It can also be used to calculate the likelihood of carrying mutations in the moderate to high risk genes BRCA1, BRCA2, PALB2, ATM, CHEK2, BARD1, RAD51C and RAD51D.
The Ovarian Cancer Model v2 has also been extended to include pathogenic variants in PALB2;
Height is now a continuous risk factor in both the breast and ovarian models;
Updated breast cancer relative risks for carriers of ATM mutations and updated mutation frequencies for the previously included genes PALB2, CHEK2, ATM (Dorling et al., NEJM 2021);
Up-to-date population cancer incidences, including for calendar periods up to 2018;
Cancer incidence rates can now be specified for Estonia, France, the Netherlands and Slovenia;
Up-to-date age-specific breast cancer pathology distributions for mutation carriers in PALB2, CHEK2, ATM, RAD51C, RAD51D and BARD1 (previously only BRCA1/2 tumour pathology distributions were included) based on Dorling et al., NEJM 2021;
Changes to the default mutation search sensitivities for all genes, using more up-to-date data (these can be changed manually depending on laboratory screening methods used);
A "Batch Tool" has been added to allow the processing of CanRisk files containing data from multiple pedigrees in one go.