Description
This panel contains genes associated with endometrial cancer. 

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial 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).

1 reviewer

  • Chirag Patel (Genetic Health Queensland)

10 Entities

10 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green Green List (high evidence)
BRCA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • BRCA1-related cancer predisposition, MONDO:0700268
  • Breast-ovarian cancer, familial, 1, MIM#604370
Tags
Green Green List (high evidence)
EPCAM
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • Lynch syndrome 8, MONDO:0013196
  • Lynch syndrome 8, MIM#613244
Tags
Green Green List (high evidence)
MLH1
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • Lynch syndrome 2, MONDO:0012249
  • Mismatch repair cancer syndrome 1, MONDO:0010159
  • Lynch syndrome 2, MIM#609310
  • Mismatch repair cancer syndrome 1, MIM#276300
Tags
Green Green List (high evidence)
MSH2
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • Lynch syndrome 1, MONDO:0007356
  • Mismatch repair cancer syndrome 2, MONDO:0030840
  • Lynch syndrome 1, MIM#120435
  • Mismatch repair cancer syndrome 2, MIM#619096
Tags
Green Green List (high evidence)
MSH6
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • Lynch syndrome 5, MONDO:0013710
  • Mismatch repair cancer syndrome 3, MONDO:0030841
  • Lynch syndrome 5, MIM#614350
  • Mismatch repair cancer syndrome 3, MIM#619097
Tags
Green Green List (high evidence)
PMS2
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • Lynch syndrome 4, MONDO:0013699
  • Mismatch repair cancer syndrome 4, MONDO:0030843
  • Lynch syndrome 4, MIM#614337
  • Mismatch repair cancer syndrome 4, MIM#619101
Tags
Green Green List (high evidence)
POLD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351
  • POLD1-associated polyposis, MIM#612591
Tags
Green Green List (high evidence)
POLE
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287
  • POLE-associated polyposis, MIM#615083
Tags
Green Green List (high evidence)
PTEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350
Tags
Green Green List (high evidence)
TP53
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • Li-Fraumeni syndrome, MONDO:0018875
  • Li-Fraumeni syndrome, MIM#151623
Tags

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