Defective DNA double strand break response due to BARD1 loss of function

Stable Identifier
Homo sapiens
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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.
Literature References
PubMed ID Title Journal Year
20077502 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families

Sermijn, E, Lissens, W, De Brakeleer, S, Janin, N, Teugels, E, Loris, R, De Grève, J

Hum Mutat 2010
26350354 Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks

Parvinsmith, MR, Ceravolo, A, Banerjee, T, Gillespie, J, Fields, S, Parvin, JD, Toland, AE, Lee, C, Starita, LM

Hum. Mutat. 2015
12431996 Enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein

Pao, GM, Xia, Y, Verma, IM, Chen, HW, Hunter, T

J. Biol. Chem. 2003
32726901 Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers

Alenezi, WM, Recio, N, Fierheller, CT, Tonin, PN

Genes (Basel) 2020
12832489 Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability

McCarthy, EE, Baer, RJ, Ludwig, T, Celebi, JT

Mol. Cell. Biol. 2003
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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