hereditary breast carcinoma
MONDO:0016419Mondo
Findings
No curated finding names hereditary breast carcinoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.
Definition from the Mondo Disease Ontology (MONDO:0016419), read 2026-09-29. CC BY 4.0.
Genes
30 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATMHGNC:795
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · Natera · Autosomal dominant · 2023
- CDH1HGNC:1748
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- PALB2HGNC:26144
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- BARD1HGNC:952
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- BRIP1HGNC:20473
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- CHEK2HGNC:16627
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- ATRIPHGNC:33499
- Limited · ClinGen · Autosomal dominant · 2024
- CDK9HGNC:1780
- Limited · Ambry Genetics · Autosomal dominant · 2025
- FANCMHGNC:23168
- Limited · ClinGen · Autosomal dominant · 2024
- MCPH1HGNC:6954
- Limited · ClinGen · Unknown · 2017
- RAD51HGNC:9817
- Limited · Ambry Genetics · Autosomal dominant · 2022
- No Known Disease Relationship · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- ERCC3HGNC:3435
- Disputed Evidence · Ambry Genetics · Autosomal dominant · 2025
- FANCCHGNC:3584
- Disputed Evidence · Natera · Unknown · 2026
- MSH6HGNC:7329
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- MUTYHHGNC:7527
- Disputed Evidence · ClinGen · Autosomal recessive · 2023
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- PMS2HGNC:9122
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- PPM1DHGNC:9277
- Disputed Evidence · Ambry Genetics · Autosomal dominant · 2018
- No Known Disease Relationship · Labcorp Genetics (formerly Invitae) · Unknown · 2017
- RECQLHGNC:9948
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- EPCAMHGNC:11529
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- GEN1HGNC:26881
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- MLH1HGNC:7127
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- MRE11HGNC:7230
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- MSH2HGNC:7325
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- NBNHGNC:7652
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- Refuted Evidence · Natera · Unknown · 2023
- PIK3CAHGNC:8975
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- RAD50HGNC:9816
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- RINT1HGNC:21876
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- SLX4HGNC:23845
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- XRCC2HGNC:12829
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- CHEK1HGNC:1925
- No Known Disease Relationship · ClinGen · Unknown · 2016
Where it sits
- A kind of
- Narrower terms (1)
Other names
13 names
Resolves to: hereditary breast carcinoma
- Also called
- breast cancer susceptibility, autosomal dominant, somatic mutationbreast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutationbreast cancer, invasive ductal, autosomal dominant, somatic mutationbreast cancer, lobular, somaticbreast cancer, male, susceptibility to, autosomal dominant, somatic mutationbreast cancer, protection against, autosomal dominant, somatic mutationbreast cancer, somaticbreast cancer, susceptibility to, autosomal dominant, somatic mutationfamilial breast cancerfamilial breast carcinomafamilial cancer of breastfamilial cancer of the breasthereditary breast cancer