Adult solid tumours for rare disease

Gene: BRCA1

Green List (high evidence)

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 22 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor. Biallelic phenotype.
Created: 5 Jul 2017, 12:19 p.m.

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

Phenotypes
Hereditary Breast and Ovarian Cancer

History Filter Activity

20 Aug 2018, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: BRCA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Aug 2018, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Mar 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

5th March 2018 - promoted to version 1 after expert review and internal clinical review.

19 Dec 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA1 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list

19 Dec 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

BRCA1 was created by Ellen McDonagh