Genodermatoses with malignancies eligibility statement: Genodermatoses with malignancies inclusion criteria (30624) - proband has clinical features diagnostic or resulting in an operational diagnosis for Gorlin syndrome or Cowden syndrome OR - proband has colorectal cancer (diagnosed age <60) AND >= 1 sebaceous adenoma, sebaceous carcinoma or epithelioma (histologically confirmed, diagnosed 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. Genodermatoses with malignancies exclusion criteria (30624) Prior genetic testing guidance (30624) - 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. Genodermatoses with malignancies prior genetic testing genes (30624) Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes: - PTCH1 (Gorlin), PTEN (Cowden), MLH1, MSH2, MSH6 (Muir Torre) Closing statement (30624) These requirements will be kept under continual review during the main programme and may be subject to change.
Ajith Kumar (Great Ormond Street Hospital)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ellen Thomas (Genomics England Curator)
Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)
Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)
Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
Catherine Snow (Genomics England)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
MLH1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MSH2 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MSH6 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PTCH1 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PTEN |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SUFU |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
PTCH2 |
3 reviews1 red |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ACTRT1 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
AKT1 |
1 review |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
KLLN |
1 review |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PIK3CA |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SDHB |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SDHD |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
Ready to promote