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Thyroid cancer pertinent cancer susceptibility (Version 1.4)

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Endocrine
Panel types: Cancer Germline 100K
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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The green genes on this panel will be reported as part of pertinent germline findings for the Cancer Programme. Germline variants are reported back to patients based on their tumour type. 

This is a set of genes with strong clinical evidence conferring susceptibility of clinically-relevant penetrance to the respective tumour type, as reviewed and submitted by Clare Turnbull (Queen Mary University). This is a list of genes to be reported as part of pertinent germline findings for the Cancer Programme.
Panel Activity

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

5 Entities

3 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green List (high evidence)
CDKN1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia, type IV, OMIM:610755
  • Thyroid cancer
  • Pituitary adenoma
Tags
Green List (high evidence)
PRKAR1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Carney complex
  • Myxoma (cardiac or cutaneous or breast)
Tags
Green List (high evidence)
PTEN
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cowden Syndrome
  • PTEN hamartoma tumor syndrome
  • Breast cancer
  • Thyroid cancer
  • Endometrial cancer
Tags
Green List (high evidence)
RET
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia 2A and 2B
  • Medullary thyroid cancer
  • Pheochromocytoma
Tags
Green List (high evidence)
WRN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Werner syndrome
  • Sarcoma
  • Melanoma
  • Thyroid cancer
Tags

Major version comments

  • 2018-09-07 13:47 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
    This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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