Description
This is a set of genes with strong clinical evidence conferring susceptibility of clinically-relevant penetrance to the respective tumour type, as reviewed and submitted by Clare Turnbull (Queen Mary University). 

Indications:
(1)    Multiple primaries, as part of the Rare Disease programme of the 100,000 Genomes Project.

(2)    Multiple primaries, as part of pertinent germline findings for the cancer programme of the 100,000 Genomes Project.

(3)    Cancer of unknown primary, as part of pertinent germline findings for the cancer programme of the 100,000 Genomes Project.

(4)    Proband with diverse family history of cancer, as part of the Rare Disease programme of the 100,000 Genomes Project.

(5)    Highly atypical presentation of cancer, as part of the Rare Disease programme of the 100,000 Genomes Project and as part of pertinent germline findings for the cancer programme of the 100,000 Genomes Project.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

54 genes

54 reviewed, 54 green

List Gene Reviews Mode of inheritance Details
54 genes
Green Green List (high evidence)
APC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Adenomatous Polyposis
Green Green List (high evidence)
ATM
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ataxia Telangiectasia
Green Green List (high evidence)
BAP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Melanocytic Tumor syndrome, Familial Uveal Melanoma
Green Green List (high evidence)
BMPR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Mixed Polyposis Syndrome
Green Green List (high evidence)
BRCA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Green Green List (high evidence)
BRCA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Green Green List (high evidence)
BRIP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • predisposition to ovarian cancer
Green Green List (high evidence)
CDC73
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperparathyroidism-Jaw Tumor Syndrome
Green Green List (high evidence)
CDH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer
Green Green List (high evidence)
CDK4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary Melanoma
Green Green List (high evidence)
CDKN1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thyroid cancer
  • Pituitary adenoma
Green Green List (high evidence)
CDKN2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma
Green Green List (high evidence)
CHEK2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Breast cancer
Green Green List (high evidence)
DICER1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • DICER1 syndrome, Familial Multinodular Goiter
Green Green List (high evidence)
EPCAM
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch syndrome
Green Green List (high evidence)
FH
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Leiomyomatosis and Renal Cell Cancer
Green Green List (high evidence)
FLCN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • renal oncocytoma
Green Green List (high evidence)
KIT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gastro-Intestinal Stromal Tumor
Green Green List (high evidence)
MAX
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Pheochromocytoma, adrenal
Green Green List (high evidence)
MEN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple Endocrine Neoplasia
Green Green List (high evidence)
MET
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal cell cancer, papillary carcinoma
Green Green List (high evidence)
MLH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green Green List (high evidence)
MSH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green Green List (high evidence)
MSH6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green Green List (high evidence)
MUTYH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer
Green Green List (high evidence)
NF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurofibromatosis
Green Green List (high evidence)
NF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acoustic neuroma
Green Green List (high evidence)
NTHL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer
Green Green List (high evidence)
PALB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • breast, pancreas
Green Green List (high evidence)
PMS2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green Green List (high evidence)
POLD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer
  • Endometrial cancer
Green Green List (high evidence)
POLE
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Colorectal cancer
Green Green List (high evidence)
PTCH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gorlin syndrome, BCC
Green Green List (high evidence)
PTEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cowden syndrome
Green Green List (high evidence)
RAD51C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ovarian cancer
Green Green List (high evidence)
RAD51D
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ovarian cancer
Green Green List (high evidence)
RB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinoblastoma
Green Green List (high evidence)
RET
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple Endocrine Neoplasia
Green Green List (high evidence)
SDHA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • gastrointestinal stromal tumors
Green Green List (high evidence)
SDHAF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Green Green List (high evidence)
SDHB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Green Green List (high evidence)
SDHC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Green Green List (high evidence)
SDHD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Green Green List (high evidence)
SMAD4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
Green Green List (high evidence)
SMARCA4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia
Green Green List (high evidence)
SMARCB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Atypical rhabdoid tumor predisposition
Green Green List (high evidence)
STK11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peutz Jeghers syndrome
Green Green List (high evidence)
SUFU
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SUFU associated Medulloblastoma
Green Green List (high evidence)
TMEM127
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Pheochromocytoma, adrenal
Green Green List (high evidence)
TP53
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Li Fraumeni Syndrome
Green Green List (high evidence)
TSC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis type 1
Green Green List (high evidence)
TSC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tuberous sclerosis type 2
Green Green List (high evidence)
VHL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Green Green List (high evidence)
WT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Wilms tumor

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

Downloads

Download lists

Download Version