Familial breast cancer

Gene: BRIP1

Red List (low evidence)

BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 21 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Intermediate penetrance variant; expert reviewers have marked as unsuitable for diagnostic use at the current time.
Created: 29 Jan 2016, 1:56 p.m.

Clare Turnbull (Queen Mary University London)

Red List (low evidence)

Intermediate penetrance (max RR~3). Equivocal regarding susceptibility to BC, better data for OC.
Created: 2 Oct 2015, 10:37 a.m.

Paul Pharoah (University of Cambridge)

Red List (low evidence)

There are no good data linking loss-of-function variants in this gene to breast cancer susceptibility
Created: 28 Sep 2015, 5:34 p.m.

History Filter Activity

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 Jul 2015, Gel status: 3

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene BRIP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

BRIP1 was added to Familial breast cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

BRIP1 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

BRIP1 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen