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Inherited ovarian cancer (without breast cancer)
Gene: BRCA1

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels

6 reviews

Arina Puzriakova (Genomics England Curator)

The 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, 5:39 p.m. | Last Modified: 30 Jan 2023, 5:39 p.m.

Panel Version: 3.3

Comment on mode of inheritance: Although more rare, biallelic 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). There are at least two unrelated individuals in literature who were diagnosed with ovarian carcinoma in association with biallelic germline BRCA1 variants.

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, 11:10 a.m. | Last Modified: 4 Apr 2022, 11:10 a.m.

Panel Version: 2.25

Comment on phenotypes: This gene is also associated with 'Pancreatic cancer, susceptibility to, 4' (MIM# 614320) and 'Fanconi anemia, complementation group S' (MIM# 617883)
Created: 3 Mar 2021, 11:46 a.m. | Last Modified: 3 Mar 2021, 11:46 a.m.

Panel Version: 2.6

Created: 3 Mar 2021, 11:46 a.m.
Last Modified: 3 Mar 2021, 11:46 a.m.
Panel version: 3.3

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:23 p.m. | Last Modified: 31 Jul 2019, 12:23 p.m.

Panel Version: 1.9

Created: 31 Jul 2019, 12:23 p.m.
Last Modified: 31 Jul 2019, 12:23 p.m.
Panel version: 1.9

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

29661970

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Jan 2019, 4:32 p.m.

Panel version: 1.5

Lara Hawkes (Genomics England)

Green List (high evidence)

Created: 29 Jan 2019, 4:32 p.m.

Panel version: 1.5

Treena Cranston (Oxford)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Aug 2017, 12:57 p.m.

Panel version: 1.0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene is reported as part of pertinent germline findings for the Cancer Programme for patients with ovarian cancer.
Created: 30 May 2017, 11:24 a.m.

Comment on list classification: Promoted to green after review by Clare Turnbull.
Created: 30 May 2017, 10:04 a.m.

Created: 30 May 2017, 10:04 a.m.

Panel version: 0.6

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert List
Expert Review Green
Expert list
UKGTN
Eligibility statement prior genetic testing
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

{Breast-ovarian cancer, familial, 1}, OMIM:604370
Hereditary breast ovarian cancer syndrome, MONDO:0003582

OMIM

113705

Clinvar variants

Variants in BRCA1

Penetrance

Complete

Publications

29661970

Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_MOI was removed from gene: BRCA1. Tag Q2_22_expert_review was removed from gene: BRCA1.

30 Jan 2023, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2022, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_MOI tag was added to gene: BRCA1. Tag Q2_22_expert_review tag was added to gene: BRCA1.

4 Apr 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; {Pancreatic cancer, susceptibility to, 4}, 614320; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Hereditary breast ovarian cancer syndrome, MONDO:0003582

29 Jan 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: BRCA1 were set to

29 Jan 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to BRCA1. Source NHS GMS was added to BRCA1. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 Jul 2017, Gel status: 4