Adult solid tumours cancer susceptibility

Gene: BRCA1

Green List (high evidence)

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 20 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from monoallelic to 'both' monoallelic and biallelic, due to feedback from Lara Hawkes and Clare Turnbull (Cancer Clinical Team, Genomics England); biallelic variants in this gene cause Fanconi anemia, complementation group S, whereas monoallelic variants confer susceptibility to Breast-ovarian cancer, familial, 1.
20 Aug 2018, 11:53 a.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor. Biallelic phenotype.
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

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Clare Turnbull: Tumor Suppressor. Biallelic ph

20 Aug 2018, Gel status: 3

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 Jul 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA1 was added to Adult solid tumourspanel. Source: Expert Review Green

5 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA1 was added to Adult solid tumourspanel. Sources: Expert list

5 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BRCA1 was created by ellenmcdonagh