Description
Multiple endocrine tumours eligibility statement:

Multiple endocrine tumours inclusion criteria (29754)
- Proband is affected by endocrine tumour (age <60)  
- >=1 additional endocrine tumour (any age) in patient or family member (FDR, SDR, TDR) (age <60).  
Sample should be sought from affected family members if alive [endocrine tumours: parathyroid hyperplasia, pituitary adenoma, GIT neuroendocrine tumour, carcinoid tumours, adrenocortical tumours, medullary thyroid carcinoma, phaeochromocytoma]
Unaffected individuals should not be recruited in this disorder. Recruitment should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Multiple endocrine tumours exclusion criteria (29754)

Prior genetic testing guidance (29754)
- 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.

Multiple endocrine tumours prior genetic testing genes (29754)
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes: 
- MEN1 (MEN1-like spectrum) 
- MEN1 and AIP (if pituitary tumours only) 
- RET (MEN2-like spectrum)

Closing statement (29754)
These requirements will be kept under continual review during the main programme and may be subject to change.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Katie Snape (South London GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Louise IZATT (GSTT Clinical Genetics Service)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

16 genes

16 reviewed, 14 green

List Gene Reviews Mode of inheritance Details
16 genes
Green Green List (high evidence)
AIP
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • pituitary tumours
  • Familial Isolated Pituitary Adenomas
  • Pituitary adenoma, growth hormone-secreting, 102200
  • Pituitary adenoma, prolactin-secreting, 600634
  • Pituitary adenoma, ACTH-secreting, 219090
  • Endocrine Cancer
Green Green List (high evidence)
CDC73
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
Green Green List (high evidence)
CDKN1B
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple endocrine neoplasia, type IV, 610755
  • Multiple Endocrine Neoplasia
  • Endocrine Cancer
Green Green List (high evidence)
MAX
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
Green Green List (high evidence)
MEN1
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Multiple Endocrine Neoplasia Type 1: MEN1 Gene Deletion/Duplication
  • Multiple Endocrine Neoplasia
  • Multiple endocrine neoplasia 1, 131100
  • Carcinoid tumor of lung
  • Parathyroid adenoma, somatic
  • Lipoma, somatic
  • Angiofibroma, somatic
  • Adrenal adenoma, somatic
  • MEN1-like spectrum
  • pituitary tumours
  • Endocrine Cancer
Green Green List (high evidence)
PRKAR1A
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
Green Green List (high evidence)
RET
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple endocrine neoplasia IIA, 171400
  • Multiple Endocrine Neoplasia
  • Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication
  • MEN2-like spectrum
  • Endocrine Cancer
Green Green List (high evidence)
SDHAF2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
  • familial paraganglioma
Green Green List (high evidence)
SDHB
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
  • familial paraganglioma
Green Green List (high evidence)
SDHC
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
Green Green List (high evidence)
SDHD
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Green Green List (high evidence)
TMEM127
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Green Green List (high evidence)
TP53
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Endocrine Cancer
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Green Green List (high evidence)
VHL
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Red Red List (low evidence)
NTRK1
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insensitivity to pain, congenital, with anhidrosis, 256800
  • Medullary thyroid carcinoma, familial, 155240
Red Red List (low evidence)
PTEN
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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