Description
Familial rhabdomyosarcoma or sarcoma eligibility statement:

Familial rhabdomyosarcoma or sarcoma inclusion criteria (29772)
- Proband is affected by rhabdomyosarcoma or sarcoma 
- >= 1 family member (FDR, SDR, TDR) affected by rhabdomyosarcoma or sarcoma (any age).  Sample should be sought if patient alive 

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.

Familial rhabdomyosarcoma or sarcoma exclusion criteria (29772)

Prior genetic testing guidance (29772)
- 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.

Familial rhabdomyosarcoma or sarcoma prior genetic testing genes (29772)
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:
- TP53

Closing statement (29772)
These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

18 genes

18 reviewed, 11 green

List Gene Reviews Mode of inheritance Details
18 genes
Green Green List (high evidence)
BUB1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300
Green Green List (high evidence)
CDKN1C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
Green Green List (high evidence)
HRAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Costello syndrome, 218040
Green Green List (high evidence)
MLH1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Green Green List (high evidence)
MSH2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Green Green List (high evidence)
MSH6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Green Green List (high evidence)
NBN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nijmegen breakage syndrome, 251260
Green Green List (high evidence)
NF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurofibromatosis, type 1 162200
Green Green List (high evidence)
PMS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Green Green List (high evidence)
RB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Retinoblastoma, 180200
Green Green List (high evidence)
TP53
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Li-Fraumeni syndrome, 151623
Red Red List (low evidence)
CREBBP
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849
Red Red List (low evidence)
DICER1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pleuropulmonary blastoma, 601200
  • Rhabdomyosarcoma, embryonal, 2, 180295
Red Red List (low evidence)
FOXO1
1 review
1 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma, alveolar, 268220
Red Red List (low evidence)
KRAS
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nevus, Epidermal 162900
Red Red List (low evidence)
PAX3
1 review
1 red
Other - please specifiy in evaluation comments
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Rhabdomyosarcoma, alveolar, 268220
Red Red List (low evidence)
PAX7
1 review
1 red
Other - please specifiy in evaluation comments
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Rhabdomyosarcoma 2, alveolar, 268220
Red Red List (low evidence)
WT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Wilms tumour 1, 194070

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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