- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: PCS. Frequency: 15/1488. (PMID:17200668;PMID:22241545)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:17200668)
These phenotypes are associated with the disease breast-ovarian cancer, familial, susceptibility to, 5 (OMIM:620442).