Although germline mutations of BARD1 are implicated in some cases of hereditary breast and ovarian cancer (HBOC), they occur less frequently that those of the BRCA1 or BRCA2 genes (De Brakeleer et al. 2010, Alenezi et al. 2020). From animal studies, it is known that the loss of BARD1 function results in a phenotype very similar to that caused by loss of BRCA1 function, characterized by embryonic lethality (McCarthy et al. 2003), genomic instability (McCarthy et al. 2003) and defects in homology-directed repair (Lee et al. 2015). A small number of clinically-relevant BARD1 missense mutants that have been functionally characterized and shown to be impaired in BRCA1 binding (Xia et al. 2003, Lee et al. 2015) are annotated in this pathway.
Lee, C, Banerjee, T, Gillespie, J, Ceravolo, A, Parvinsmith, MR, Starita, LM, Fields, S, Toland, AE, Parvin, JD
De Brakeleer, S, De Grève, J, Loris, R, Janin, N, Lissens, W, Sermijn, E, Teugels, E
Xia, Y, Pao, GM, Chen, HW, Verma, IM, Hunter, T
Alenezi, WM, Fierheller, CT, Recio, N, Tonin, PN
McCarthy, EE, Celebi, JT, Baer, RJ, Ludwig, T
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