Description
Peutz-Jeghers syndrome eligibility statement:

Peutz-Jeghers syndrome inclusion criteria (36536)
•	Two or more histologically confirmed PJS-type hamartomatous polyps  OR 
•	Any number of PJS-type polyps detected in one individual who has a confirmed family history of PJS in FDR  OR 
•	Characteristic mucocutaneous pigmentation in an individual who has a confirmed family history of PJS  OR 
•	Any number of PJS-type polyps in an individual who also has characteristic mucocutaneous pigmentation.  

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.

Peutz-Jeghers syndrome exclusion criteria (36536)

Prior genetic testing guidance (36536)
- 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.

Peutz-Jeghers syndrome prior genetic testing genes (36536)
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:
- STK11

Closing statement (36536)
These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

15 genes

6 reviewed, 13 green

List Gene Reviews Mode of inheritance Details
15 genes
Green Green List (high evidence)
APC
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Adenomatous polyposis coli 175100
  • Brain tumor-polyposis syndrome 2 175100
  • Gardner syndrome 175100
  • Desmoid disease, hereditary 135290
Green Green List (high evidence)
BMPR1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Polyposis, juvenile intestinal, 174900
  • Polyposis syndrome, hereditary mixed, 2, 610069
  • Juvenile polyposis syndrome, infantile form, 174900
Green Green List (high evidence)
MLH1
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Mismatch repair cancer syndrome 276300 AR
  • Muir-Torre syndrome 158320 AD
Green Green List (high evidence)
MSH2
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Green Green List (high evidence)
MSH6
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Green Green List (high evidence)
MUTYH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
  • MYH-Associated Polyposis
  • MUTYH-Associated Polyposis
  • Familial Adenomatous Polyposis, 2
  • adenomatous polyposis
Green Green List (high evidence)
NTHL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Colorectal cancer
  • multiple adenomas
  • Multiple colorectal adenomas
  • colorectal cancer
Green Green List (high evidence)
PMS2
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Green Green List (high evidence)
POLD1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Familial colorectal cancer
  • Familial polyposis and colon cancer
Green Green List (high evidence)
POLE
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Familial colorectal polyposis and cancer
  • Familial polyposis and colon cancer
Green Green List (high evidence)
PTEN
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
  • Bowel polyps found in majority of patients with PTEN-related disorders
Green Green List (high evidence)
SMAD4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
  • juvenile polyposis
  • Pancreatic cancer
  • Polyposis, juvenile intestinal, 174900
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
  • Myhre syndrome, 139210
  • Juvenile Polyposis Syndrome
Green Green List (high evidence)
STK11
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Peutz-Jeghers syndrome 175200
Red Red List (low evidence)
FOXO3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Hamartomatous polyposis syndromes including Peutz-Jeghers and PTEN hamartoma tumor syndromes
Red Red List (low evidence)
SMAD9
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Hamartomatous Polyposis
  • Gastrointestinal Ganglioneuromas

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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