Ovarian cancer pertinent cancer susceptibility
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, 11:25 a.m. | Last Modified: 30 Jan 2023, 11:25 a.m.
Panel Version: 1.13
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, 11:16 a.m. | Last Modified: 4 Apr 2022, 11:16 a.m.
Panel Version: 1.7
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for Ovarian tumour type.Created: 26 Jul 2017, 12:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast; Ovarian
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 Ovarian cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370
Ellen McDonagh: Comment on list classification
This gene has been classified as Green List (High Evidence).
BRCA1 was created by ellenmcdonagh
BRCA1 was added to Ovarian cancerpanel. Sources: Expert list