Familial breast cancer

Gene: TP53

Green List (high evidence)

TP53 (tumor protein p53)
EnsemblGeneIds (GRCh38): ENSG00000141510
EnsemblGeneIds (GRCh37): ENSG00000141510
OMIM: 191170, Gene2Phenotype
TP53 is in 22 panels

3 reviews

Paul Pharoah (University of Cambridge)

Green List (high evidence)

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)

Green List (high evidence)

Needs careful curation of missense variant list
Created: 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

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