Inherited pancreatic cancer

Gene: BRCA1

Amber List (moderate evidence)

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 26 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 1} (MIM# 604370) and Fanconi anemia, complementation group S (MIM# 617883)
Created: 3 Mar 2021, 2:10 p.m. | Last Modified: 3 Mar 2021, 2:10 p.m.
Panel Version: 1.8

Rachel Robinson (Leeds Genetics Laboratory)

I don't know

Publications

Variants in this GENE are reported as part of current diagnostic practice

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.
Created: 20 Aug 2018, 11:53 a.m.

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

3 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BRCA1 were changed from to {Pancreatic cancer, susceptibility to, 4}, OMIM:614320; Pancreatic cancer, susceptibility to, 4, MONDO:0013685

15 Oct 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: BRCA1 were set to

30 Jan 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: brca1 has been classified as Amber List (Moderate Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: BRCA1 was added gene: BRCA1 was added to Inherited pancreatic cancer. Sources: NHS GMS Mode of inheritance for gene: BRCA1 was set to