PanelApp (staging)
  1. Panels
  2. Colorectal Cancer and Polyposis
Description
This panel contains genes associated with colorectal cancer and polyposis. 

Further information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: 
https://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can

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

19 Entities

19 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green Green List (high evidence)
APC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • APC-related attenuated familial adenomatous polyposis, MONDO:0016613
  • Classic familial adenomatous polyposis, MONDO:0021055
  • Familial adenomatous polyposis 1, MONDO:0021056
  • Adenomatous polyposis coli, MIM#175100
Tags
Green Green List (high evidence)
AXIN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426
  • Oligodontia-cancer predisposition syndrome, MONDO:0012075
  • Oligodontia-colorectal cancer syndrome, MIM#608615
Tags
Green Green List (high evidence)
BMPR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Polyposis syndrome, hereditary mixed, 2, MONDO:0012405
  • Polyposis, juvenile intestinal, MIM#174900
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
  • Lynch syndrome 8, MONDO:0013196
  • Lynch syndrome 8, MIM#613244
Tags
Green Green List (high evidence)
GREM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Hereditary mixed polyposis syndrome, MONDO:0011023
  • GREM1-associated polyposis, no MIM#
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
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • 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
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • 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)
MSH3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Familial adenomatous polyposis 4, MONDO:0044300
  • Familial adenomatous polyposis 4, MIM#617100
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
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • 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)
MUTYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Familial adenomatous polyposis 2, MONDO:0012041
  • Adenomas, multiple colorectal, MIM#608456
Tags
Green Green List (high evidence)
NTHL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • NTHL1-deficiency tumor predisposition syndrome, MONDO:0100502
  • Familial adenomatous polyposis 3, MIM#616415
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
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • 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
  • 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
  • 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
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350
Tags
Green Green List (high evidence)
RNF43
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Sessile serrated polyposis cancer syndrome, MONDO:0014919
  • Sessile serrated polyposis cancer syndrome, MIM#617108
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MONDO:0008278
  • Polyposis, juvenile intestinal, MIM#174900
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050
Tags
Green Green List (high evidence)
STK11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Peutz-Jeghers syndrome, MONDO:0008280
  • Peutz-Jeghers syndrome, MIM#175200
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
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Li-Fraumeni syndrome, MONDO:0018875
  • Li-Fraumeni syndrome, MIM#151623
Tags

Major version comments

Downloads

Download lists

Download Version