Inherited non-medullary thyroid cancer

Gene: APC

Green List (high evidence)

APC (APC, WNT signaling pathway regulator)
EnsemblGeneIds (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 coli
Created: 21 Jun 2017, 1:48 p.m.

Emma Woodward (Manchester Centre for Genomic Medicine)

Green List (high evidence)

I would include in FNMTC panel, although GI penetrance of FAP is much higher so likely that phenotype would be apparent
Created: 13 Jun 2017, 6:13 a.m.

Fiona Lalloo (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Clear association between APC mutations and papillary thyroid carcinoma
Created: 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

History Filter Activity

7 Aug 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

All genes have been reviewed and the reviews evaluated. 07.08.2017

21 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jun 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APC were set to Adenomatous polyposis coli (Thyroid papillary carcinoma in patients with APC) 175100

21 Jun 2017, Gel status: 4

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

18 May 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

APC was added to Inherited non-medullary thyroid cancerpanel. Source: UKGTN

18 May 2017, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

APC was added to Inherited non-medullary thyroid cancerpanel. Source: Radboud University Medical Center, Nijmegen

18 May 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

APC was added to Inherited non-medullary thyroid cancerpanel. Source: Illumina TruGenome Clinical Sequencing Services

18 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

APC was created by sleigh

18 May 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

APC was added to Inherited non-medullary thyroid cancerpanel. Sources: Emory Genetics Laboratory