GI tract tumours
Gene: BRCA1
BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
2 reviews
Ian Tomlinson (University of Oxford)
Mode of inheritance
Unknown
Ian Frayling (Cardiff University)
May possibly act as a modifier of colorectal cancer risk, but is not recognised as a major predisposition locusCreated: 8 Dec 2015, 2:12 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Gastrointestinal and Colorectal Cancer
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- Complete
- Panels with this gene
-
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Haematological malignancies cancer susceptibility
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- NICE approved PARP inhibitor treatment
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Pigmentary skin disorders
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Familial prostate cancer
- Additional findings health related - adult specific
- Inherited breast cancer and ovarian cancer
- Adult solid tumours cancer susceptibility
- Inherited prostate cancer
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited pancreatic cancer
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
History Filter Activity
12 May 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
11 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA1 was added to GI tractpanel. Sources: Emory Genetics Laboratory
11 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BRCA1 was created by ellenmcdonagh