Familial breast cancer
Gene: TP53
TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 26 panels
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 26 panels
3 reviews
Paul Pharoah (University of Cambridge)
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: Needs careful curation of missense variants as pointed out in expert review.Created: 29 Jan 2016, 2:29 p.m.
Comment on list classification: Definite association with breast and other cancers.Created: 29 Jan 2016, 2:28 p.m.
Clare Turnbull (Queen Mary University London)
Needs careful curation of missense variant listCreated: 2 Oct 2015, 11:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Colorectal cancer, 114500
- Li-Fraumeni syndrome, 151623
- Hepatocellular carcinoma, 114550
- Osteosarcoma, 259500
- Choroid plexus papilloma, 260500
- Nasopharyngeal carcinoma, 607107
- Pancreatic cancer, 260350
- Adrenal cortical carcinoma, 202300
- Breast cancer, 114480
- {Basal cell carcinoma 7}, 614740
- {Glioma susceptibility 1}, 137800
- High Risk Breast Cancer
- Breast and Ovarian Cancer
- OMIM
- 191170
- Clinvar variants
- Variants in TP53
- Penetrance
- Complete
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Sarcoma of possible germline origin
- Childhood solid tumours cancer susceptibility
- Li Fraumeni Syndrome
- Inherited phaeochromocytoma and paraganglioma
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Brain cancer pertinent cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- COVID-19 research
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- GI tract tumours
- Sarcoma susceptibility
- Embryonal tumour of possible germline origin
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
History Filter Activity
29 Jan 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Jan 2016, Gel status: 4
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for TP53 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Jan 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Jul 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)TP53 was added to Familial breast cancerpanel. Sources: Expert list
27 Jul 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)TP53 was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory
27 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)TP53 was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen