Sarcoma cancer susceptibility (Version 1.25)

Description

The green genes on this panel will be reported as part of pertinent germline findings for the Cancer Programme. Germline variants are reported back to patients based on their tumour type. 

This is a set of genes with strong clinical evidence conferring susceptibility of clinically-relevant penetrance to the respective tumour type, as reviewed by some members of The Inherited Cancer Predisposition (InCaP) Genomics England Clinical Interpretation Partnership (GeCIP) domain and submitted by Clare Turnbull (Queen Mary University).

Update 14th May 2018:
The following additional Green genes were added:
- MTAP
- PDGFRA
- RECQL4
- SQSTM1 
- T (Brachyury, TBXT)

TNFRSF11A was added as red due to limited evidence to date for a direct link between this gene and osteosarcoma.

Update 13th March 2019:
Additional genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). Reviews from these panels were transferred accross.

Panel Activity

9 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Robinson (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Clare Turnbull (Queen Mary University London)

Group: GeCIP domain
Workplace: NHS clinical service
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Lara Hawkes (Genomics England)

Group: Other NHS organisation
Workplace: NHS clinical service
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab

33 Entities

33 reviewed, 6 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 33 Entitiess
Green Green List (high evidence)	MTAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes UPS of bone Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250 Tags
Green Green List (high evidence)	PDGFRA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510 Familial Gastrointestinal stromal tumour Familial GIST Tags
Green Green List (high evidence)	RECQL4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400 Osteosarcoma Tags
Green Green List (high evidence)	SQSTM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Paget disease of bone 3 167250 Osteosarcoma Tags
Green Green List (high evidence)	T	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chordoma (disease), MONDO:0008978 Tags cnv new-gene-name
Green Green List (high evidence)	TP53	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Sarcoma Tags
Amber Amber List (moderate evidence)	BUB1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mosaic variegated aneuploidy syndrome 1, 257300 Tags
Amber Amber List (moderate evidence)	CDKN1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Beckwith-Wiedemann syndrome, 130650 Tags
Amber Amber List (moderate evidence)	EXT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Chondrosarcoma 215300 Tags
Amber Amber List (moderate evidence)	EXT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Exostoses, multiple, type 2 Tags
Amber Amber List (moderate evidence)	FH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Phenotypes Leiomyomatosis and renal cell cancer 150800 Tags
Amber Amber List (moderate evidence)	HRAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Costello syndrome, 218040 Tags
Amber Amber List (moderate evidence)	KIT	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber Phenotypes Gastrointestinal stromal tumor, familial, OMIM:606764 Tags
Amber Amber List (moderate evidence)	MLH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mismatch repair cancer syndrome, 276300 Tags
Amber Amber List (moderate evidence)	MSH2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mismatch repair cancer syndrome, 276300 Tags
Amber Amber List (moderate evidence)	MSH6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mismatch repair cancer syndrome, 276300 Tags
Amber Amber List (moderate evidence)	NBN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nijmegen breakage syndrome, 251260 Tags
Amber Amber List (moderate evidence)	NF1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Red Literature Phenotypes Neurofibromatosis, type 1 162200 Tags
Amber Amber List (moderate evidence)	PMS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mismatch repair cancer syndrome, 276300 Tags
Amber Amber List (moderate evidence)	RB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Retinoblastoma, 180200 Tags
Amber Amber List (moderate evidence)	SDHA	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber Tags
Amber Amber List (moderate evidence)	SDHB	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber Tags
Amber Amber List (moderate evidence)	SDHC	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber Tags
Amber Amber List (moderate evidence)	SDHD	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber Tags
Amber Amber List (moderate evidence)	WRN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Werner syndrome 277700 Tags
Red Red List (low evidence)	CREBBP	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Rubinstein-Taybi syndrome 1, 180849 Tags
Red Red List (low evidence)	DICER1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Pleuropulmonary blastoma, 601200 Rhabdomyosarcoma, embryonal, 2, 180295 Tags
Red Red List (low evidence)	FOXO1	2 reviews 2 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Rhabdomyosarcoma, alveolar, 268220 Tags
Red Red List (low evidence)	KRAS	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Nevus, Epidermal 162900 Tags
Red Red List (low evidence)	PAX3	2 reviews 2 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Rhabdomyosarcoma, alveolar, 268220 Tags
Red Red List (low evidence)	PAX7	2 reviews 2 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Rhabdomyosarcoma 2, alveolar, 268220 Tags
Red Red List (low evidence)	TNFRSF11A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Paget disease of bone Polyostotic osteolytic dysplasia (hereditary expansile) Osteosarcoma Tags
Red Red List (low evidence)	WT1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Wilms tumour 1, 194070 Tags

Major version comments

2018-09-07 13:40 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.

Sarcoma cancer susceptibility (Version 1.25)

9 reviewers

33 Entities

33 reviewed, 6 green

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