Inherited non-medullary thyroid cancer
Gene: APCEnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 16 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: At least nine published cases of papillary thyroid cancer in patients with APC variants and Adenomatous polyposis coliCreated: 21 Jun 2017, 1:48 p.m.
Emma Woodward (Manchester Centre for Genomic Medicine)
I would include in FNMTC panel, although GI penetrance of FAP is much higher so likely that phenotype would be apparentCreated: 13 Jun 2017, 6:13 a.m.
Fiona Lalloo (Manchester Centre for Genomic Medicine)
Clear association between APC mutations and papillary thyroid carcinomaCreated: 8 Jun 2017, 5:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adenomatous polyposis; papillary thyroid cancer
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Adenomatous polyposis coli (Thyroid papillary carcinoma in patients with APC) 175100
- OMIM
- 611731
- Clinvar variants
- Variants in APC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Brain cancer pertinent cancer susceptibility
- Multiple monogenic benign skin tumours
- APC associated Polyposis
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Additional findings health related - CNV analysis children
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Inherited polyposis and early onset colorectal cancer - germline testing
- Childhood solid tumours cancer susceptibility
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APC were set to Adenomatous polyposis coli (Thyroid papillary carcinoma in patients with APC) 175100
Set publications
Sarah Leigh (Genomics England Curator)Publications for APC were set to https://doi.org/10.1016/j.mpdhp.2016.02.005; 28490611; 26697262
Added New Source
Sarah Leigh (Genomics England Curator)APC was added to Inherited non-medullary thyroid cancerpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)APC was added to Inherited non-medullary thyroid cancerpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)APC was added to Inherited non-medullary thyroid cancerpanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)APC was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)APC was added to Inherited non-medullary thyroid cancerpanel. Sources: Emory Genetics Laboratory