Familial breast cancer
Gene: PTEN
PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: Clinically tested in patients with suggestive phenotypes. High risk of breast cancer and important management implications.Created: 29 Jan 2016, 5:06 p.m.
Comment on list classification: Germline PTEN mutations are associated with an 85% lifetime risk of breast cancer.Created: 29 Jan 2016, 5:04 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- High Risk Breast Cancer
- Breast and Ovarian Cancer
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Publications
-
- PMID: 22252256
- Panels with this gene
-
- Hereditary neuropathy
- Endocrine neoplasia
- Early onset or syndromic epilepsy
- Multiple endocrine tumours
- Hereditary neuropathy or pain disorder
- DDG2P
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Inherited renal cancer
- PTEN Hamartoma Tumor Syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- White matter disorders and cerebral calcification - childhood onset
- Inherited phaeochromocytoma and paraganglioma
- Segmental overgrowth disorders - Deep sequencing
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Dystonia, chorea or related movement disorder, adult onset
- Cytopenias and congenital anaemias
- Leukodystrophy, adult onset
- COVID-19 research
- Cerebral vascular malformations
- Intellectual disability
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Mosaic skin disorders - Deep sequencing
- Hydrocephalus
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Neurodegenerative disorders, adult onset
- Familial prostate cancer
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Neurological segmental overgrowth
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- Malformations of cortical development
- Inherited polyposis and early onset colorectal cancer - germline testing
History Filter Activity
29 Jan 2016, Gel status: 4
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PTEN 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).
29 Jan 2016, Gel status: 4
Set publications
Ellen Thomas (Genomics England Curator)Publications for PTEN were set to PMID: 22252256
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: 1
Added New Source
Eik Haraldsdottir (Genomics England)PTEN was added to Familial breast cancerpanel. Sources: Emory Genetics Laboratory