Description
Inherited non-medullary thyroid cancer eligibility statement:

Inherited non-medullary thyroid cancer inclusion criteria (41888)
Proband non-medullary thyroid cancer <60 years
AND one of 

One or more first degree relative with non-medullary thyroid cancer <60 years
OR
One or more first, second or third degree relatives with non-medullary thyroid cancer AND a second first, second or third degree relative with another thyroid pathology (e.g. multinodular goitre, thyroiditis).

Unaffected individuals should not be recruited to this category

Inherited non-medullary thyroid cancer exclusion criteria (41888)
Known genetic cause

Prior genetic testing guidance (41888)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Inherited non-medullary thyroid cancer prior genetic testing genes (41888)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes specified

Closing statement (41888)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Emma Woodward (Manchester Centre for Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Fiona Lalloo (Manchester Centre for Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

30 genes

30 reviewed, 6 green

List Gene Reviews Mode of inheritance Details
30 genes
Green Green List (high evidence)
APC
3 reviews
2 green
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
Green Green List (high evidence)
DICER1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 138800
  • Pleuropulmonary blastoma 601200
Green Green List (high evidence)
PRKAR1A
3 reviews
2 green
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
  • Carney complex, type 1 160980
Green Green List (high evidence)
PTEN
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Cowden syndrome 1 158350
  • Lhermitte-Duclos syndrome 158350
Green Green List (high evidence)
SEC23B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Cowden syndrome 7 616858
Green Green List (high evidence)
WRN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
  • Literature
Phenotypes
  • Werner syndrome 277700
Amber Amber List (moderate evidence)
FOXE1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Thyroid cancer, nonmedullary, 4} 616534
Amber Amber List (moderate evidence)
MSH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Familial Non-medullary Thyroid Cancer
Amber Amber List (moderate evidence)
SLC5A5
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Follicular thyroid adenoma
  • Thyroid dyshormonogenesis 1 274400
Red Red List (low evidence)
BRAF
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial Non-medullary Thyroid Cancer
Red Red List (low evidence)
BRCA1
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Non-medullary thyroid cancer
Red Red List (low evidence)
BRCA2
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • non-medullary thyroid cancer
Red Red List (low evidence)
DIRAS3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • follicular thyroid carcinoma
Tags
  • somatic
Red Red List (low evidence)
GNAS
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Inherited non-medullary thyroid cancer
Red Red List (low evidence)
HABP2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • {?Thyroid cancer, nonmedullary, 5} 616535
Red Red List (low evidence)
KISS1R
3 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Somatic follicular and papillary thyroid carcinomas
Red Red List (low evidence)
MEN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Familial Non-medullary Thyroid Cancer
Red Red List (low evidence)
MINPP1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thyroid carcinoma, follicular 188470
Red Red List (low evidence)
MSH6
1 review
1 green
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial Non-medullary Thyroid Cancer
Red Red List (low evidence)
NDUFA13
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • papillary thyroid carcinoma (predominantly Hurthle cells) 607464
Red Red List (low evidence)
NKX2-1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Thyroid cancer, monmedullary, 1} 188550
Red Red List (low evidence)
PIK3CA
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 5 615108
Red Red List (low evidence)
PTCSC1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • papillary thyroid, susceptibility
Red Red List (low evidence)
PTCSC3
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • papillary thyroid carcinoma
Red Red List (low evidence)
SDHB
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cowden syndrome 2 612359
Red Red List (low evidence)
SDHD
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Cowden syndrome 3 615106
Red Red List (low evidence)
SRGAP1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Thyroid carcinoma, follicular 188470
Red Red List (low evidence)
SRRM2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • predisposition papillary thyroid carcinoma
Red Red List (low evidence)
TG
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thyroid dyshormonogenesis 3 274700
Red Red List (low evidence)
VTRNA2-1
2 reviews
2 red
Unknown
Sources
  • Literature
Phenotypes
  • familial papillary thyroid cancers

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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