Inherited breast cancer and ovarian cancer
Gene: BRCA1The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 5:34 p.m. | Last Modified: 30 Jan 2023, 5:34 p.m.
Panel Version: 1.2
Comment on mode of inheritance: Although more rare, biallelic germline BRCA1 variants have been shown to also confer breast and ovarian cancer susceptibility (with or without FA‐like features), and multiple such cases have been reported worldwide (PMIDs: 23269703; 25472942; 31347298; 33477375).
This may warrant an MOI change from 'monoallelic' to 'both mono- and biallelic' to ensure these rarer cases are not missed; however this will be flagged for further review to confirm whether the GMS expert group agrees with the change.Created: 4 Apr 2022, 11:13 a.m. | Last Modified: 4 Apr 2022, 11:13 a.m.
Panel Version: 0.17
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_22_MOI was removed from gene: BRCA1. Tag Q2_22_expert_review was removed from gene: BRCA1.
Source NHS GMS was added to BRCA1. Mode of inheritance for gene BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q2_22_MOI tag was added to gene: BRCA1. Tag Q2_22_expert_review tag was added to gene: BRCA1.
Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; Breast and Ovarian Cancer; {Pancreatic cancer, susceptibility to, 4}, 614320; Breast cancer; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Breast and Ovarian Cancer; High Risk Breast Cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370
gene: BRCA1 was added gene: BRCA1 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA1 were set to {Breast-ovarian cancer, familial, 1}, 604370; Breast and Ovarian Cancer; {Pancreatic cancer, susceptibility to, 4}, 614320; Breast cancer; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Breast and Ovarian Cancer; High Risk Breast Cancer