Inherited pancreatic cancer
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:56 a.m. | Last Modified: 8 Mar 2022, 11:56 a.m.
Panel Version: 1.20
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)
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- {Pancreatic cancer, susceptibility to, 4}, OMIM:614320
- Pancreatic cancer, susceptibility to, 4, MONDO:0013685
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- NICE approved PARP inhibitor treatment
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Fetal anomalies
History Filter Activity
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to BRCA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: BRCA1 were set to
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: brca1 has been classified as Amber List (Moderate Evidence).
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