Non-Fanconi anaemia
Gene: BRCA1

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

2 reviews

Helen Lindsay (Leeds Genetics Laboratory)

Red List (low evidence)

Publications

25472942

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by reviewer, and rated red. PMID: 25472942 reports a case with biallelic BRCA1 variants, who had multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23. Patient cells exhibited deficiency in BRCA1 and RAD51 localization to DNA-damage sites, combined with radial chromosome formation and hypersensitivity to ICL-inducing agents. Restoration of these functions was achieved by ectopic introduction of a BRCA1 transgene, suggesting BRCA1 may cause a subtype of fanconi anaemia.
Created: 1 Nov 2017, 11:05 a.m.

Created: 1 Nov 2017, 11 a.m.

Panel version: 0.327

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

OMIM

113705

Clinvar variants

Variants in BRCA1

Penetrance

Complete

Publications

Sawyer et al (2014) "Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype". Cancer Discov 5 (2): 135–42

Panels with this gene

History Filter Activity

1 Nov 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).

19 Oct 2015, Gel status: 0

Added New Source

Helen Lindsay (Leeds Genetics Laboratory)

BRCA1 was added to Non-Fanconi anaemiapanel. Sources: Literature

Non-Fanconi anaemia Gene: BRCA1