Description
Parathyroid Cancer eligibility statement:

Parathyroid Cancer inclusion criteria (30612)
- proband affected by parathyroid carcinoma (age <60)  
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.

Parathyroid Cancer exclusion criteria (30612)

Prior genetic testing guidance (30612)
- 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.

Parathyroid cancer prior genetic testing genes (30612)
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:
CDC73

Closing statement (30612)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • 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

7 genes

7 reviewed, 2 green

List Gene Reviews Mode of inheritance Details
7 genes
Green Green List (high evidence)
CDC73
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperparathyroidism, familial primary, 145000
  • Hyperparathyroidism-jaw tumor syndrome, 145001
  • Parathyroid adenoma with cystic changes, 145001
  • Parathyroid carcinoma, 608266
  • Parathyroid Carcinoma
  • Pituitary Cancer, Parathyroid and Hypercalcemia
  • Parathyroid Cancer
Green Green List (high evidence)
MEN1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple endocrine neoplasia 1, 131100
  • Carcinoid tumor of lung
  • Parathyroid adenoma, somatic
  • Lipoma, somatic
  • Angiofibroma, somatic
  • Adrenal adenoma, somatic
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Red Red List (low evidence)
AIP
1 review
1 red
Not set
Sources
  • UKGTN
  • Expert Review Red
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Red Red List (low evidence)
CASR
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Red Red List (low evidence)
CDKN1B
2 reviews
2 red
Not set
Sources
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Red Red List (low evidence)
PRKAR1A
2 reviews
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Red Red List (low evidence)
RET
1 review
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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