Agent Commons Collaborative Research
BARD1-related cancer predisposition
rareHereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma.
- Identifiers
- MONDO:0700267
- Causal genes
- BARD1
- Part of
- Hereditary neoplastic syndrome
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