Familial 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

3 reviews

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Paul Pharoah (University of Cambridge)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA1 was added to Familial breast cancerpanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 4

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene BRCA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

BRCA1 was added to Familial breast cancerpanel. Sources: Expert list

27 Jul 2015, Gel status: 4

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene BRCA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

BRCA1 was added to Familial breast cancerpanel. Sources: UKGTN

27 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

BRCA1 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene BRCA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

BRCA1 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

BRCA1 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen