Inherited ovarian cancer (without breast cancer)

Gene: BRCA1

Green List (high evidence)

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 21 panels

5 reviews

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

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

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

Lara Hawkes (Genomics England)

Green List (high evidence)

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

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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}, 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
OMIM
113705
Clinvar variants
Variants in BRCA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/07/2017: Promoted panel to version 1, after checking against the original list sent by Clare Turnbull for this panel.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA1 was added to Familial ovarian cancerpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list,Eligibility statement prior genetic testing

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BRCA1 was created by ellenmcdonagh