The current versions of the BOADICEA Model (
v5v6) and
the ovarian model (v1the Ovarian Cancer Model (v2) implemented in CanRisk do not allow for the possibility of an individual carrying a pathogenic variant in more than one gene. The models assume a dominant model with the order of precedence being: BRCA1, BRCA2, PALB2, CHEK2
and ATM for BOADICEA, ATM, BARD1, RAD51C and RAD51D for the BOADICEA Model; and BRCA1, BRCA2, RAD51D, RAD51C
and , BRIP1 and PALB2 for the
ovarian modelOvarian Cancer Model. In the presence of a mutation in one gene, no additional risk is conferred by a second mutation in another gene lower in the dominance chain. Therefore, the second observed mutation is ignored. For more details see Lee et al
Genet In Med 2016Please note that under this model, when a family member (other than the proband) carries more than one mutation, or if two or more mutations segregate in a family, the mutation carrier probabilities for the proband may be inaccurate for the genes lower in the dominance chain. For example, when a mother carries BRCA1 and CHEK2 mutations, the CHEK2 mutation is ignored and the carrier probability for CHEK2 may be inaccurate for the proband.
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