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  2. Thyroid Cancer

Thyroid Cancer (Version 1.1)

Level 2: Cancer Predisposition

Panel types: Victorian Clinical Genetics Services, Genetic Health Queensland, Cancer Germline, Adult Genetics Unit, Royal Adelaide Hospital
Description
This panel contains genes associated with thyroid cancer. 

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with thyroid cancer and are clinically actionable for diagnostic and/or predictive genetic testing.

Ensure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.

This panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.

This panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).
Panel Activity

1 reviewer

  • Chirag Patel (Genetic Health Queensland)

6 Entities

6 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
6 Entitiess
Green List (high evidence)
APC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Thyroid cancer, MONDO:0002108
  • Thyroid gland papillary carcinoma, MONDO:0005075
  • Familial adenomatous polyposis 1, MONDO:0021056
  • Adenomatous polyposis coli, MIM#175100
Tags
Green List (high evidence)
CDKN1B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Thyroid cancer, MONDO:0002108
  • Thyroid gland papillary carcinoma, MONDO:0005075
  • Multiple endocrine neoplasia type 4, MONDO:0012552
  • Multiple endocrine neoplasia, type 4, MIM#610755
Tags
Green List (high evidence)
DICER1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Thyroid cancer, MONDO:0002108
  • Thyroid gland papillary carcinoma, MONDO:0005075
  • DICER1-related tumor predisposition, MONDO:0100216
  • DICER1 syndrome, MIM#601200
Tags
Green List (high evidence)
PRKAR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Thyroid cancer, MONDO:0002108
  • Thyroid gland follicular carcinoma, MONDO:0005034
  • Carney complex type 1, MONDO:0008057
  • Carney complex, type 1, MIM#160980
Tags
Green List (high evidence)
PTEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Thyroid cancer, MONDO:0002108
  • Thyroid gland follicular carcinoma, MONDO:0005034
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350
Tags
Green List (high evidence)
RET
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Thyroid cancer, MONDO:0002108
  • Medullary thyroid gland carcinoma, MONDO:0015277
  • Multiple endocrine neoplasia type 2A, MONDO:0008234
  • Multiple endocrine neoplasia type 2B, MONDO:0008082
  • Multiple endocrine neoplasia, type 2A, MIM#171400
  • Multiple endocrine neoplasia, type 2B, MIM#162300
  • Pheochromocytoma, MIM#171300
  • Medullary thyroid carcinoma, MIM#155240
  • Pheochromocytoma, susceptibility to, MIM#171300
Tags

Major version comments

  • 2024-10-09 03:26 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Promoted to V1.

Downloads

Download lists

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

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