Download Cancer Gene Panel Menu Here

Version 2.1 (28/03/2016)
Page 1 of 3
Cancer gene panel – menu of genes for analysis
Patient Details (minimum requirement: full name and NHS number or other identifier on all pages)
Surname:
First Name(s):
NHS No:
OR
Other unit number:
Comments:
Requesting Clinician Print:
Signature: ___________________
Please select genes for next generation sequence and dosage analysis by:
a)
b)
Check the box for panel(s) required - from inherited cancer, additional phenotypes, inherited haematological panels sections or
Check a customised selection of genes from the full 155 gene list
Please send this menu, with our referral form (http://www.leedsth.nhs.uk/a-z-of-services/molecular-genetics/sending-samples-to-the-laboratory/)
and sample to: Leeds Genetics Laboratory (molecular genetics), Ashley Wing, St James's University Hospital, Leeds LS9 7TF, UK
If the laboratory already has a sample banked, this form alone is sufficient to activate analysis.
a)
Panel
Required
Inherited cancer panels:
Genes
+ and * genes - See notes on page 3
Bowel
APC+, BMPR1A, EPCAM*, GREM1* (& SCG5*), MLH1,
MSH2+, MSH6, MUTYH, NTHL1, POLE, POLD1, PMS2,
PTEN, SMAD4, STK11
Breast including ovary
BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53
Kidney
FH, FLCN, MET, PTEN, SDHB, SDHC, SDHD, STK11,
TMEM127, VHL
Neurofibromatosis, schwannoma,
meningioma, and café au lait
BAP1, LZTR1, PTEN, NF1, NF2, SMARCB1, SMARCE1,
SPRED1, SUFU
Pancreas
BRCA2, CDK4, CDKN2A+, PALB2, STK11
Pituitary cancer, parathyroid,
hypercalcaemia, adrenal
adenoma/hyperplasia.
AIP, CASR, CDC73, CDKN1B, MEN1, PDE8B, PDE11A,
PRKAR1A, RET
Pheochromocytoma and
paraganglioma
EGLN1, EGLN2, KIF1B, MAX, NF1, RET, SDHA, SDHAF2,
SDHB, SDHC, SDHD, TMEM127, VHL
Skin cancer melanoma
BAP1, BRCA2, CDK4, CDKN2A+, POT1, POLE, TERT+
Uterus
FH, MLH1, MSH2+, MSH6, PMS2, PTEN, STK11
Version 2.1 (28/03/2016)
Surname:
First Name(s):
NHS No:
Panel
Required
Panel(s)
Required
Page 2 of 3
OR
Other unit number:
Additional phenotypes available
Genes
Carney complex
PRKAR1A
Cyclindromatosis, trichoepithelioma
CYLD
DICER1-pleuropulmonary blastoma
familial tumour predisposition syndrome
DICER1
Diffuse gastric cancer
CDH1
Hereditary multiple exostoses
EXT1, EXT2
Inherited lung cancer
EGFR
Nevoid basal cell carcinoma syndrome
PTCH1, SUFU
Retinoblastoma
RB1
Rubinstein-Taybi syndrome
CREBBP
Tuberous sclerosis
TSC1, TSC2
Wilms tumour
BUB1B, CDC73, CDKN1C, CTR9, DIS3L2, GPC3, REST,
WT1
Inherited haematological disorders
Genes
Myelodysplastic syndromes/ Acute
leukaemia
ANKRD26+, CBL, CEBPA, CSF3R, DDX41+, ELANE,
ETV6, GATA2, G6PC3, GFI1, HOXA11, HAX1, HRAS,
NF1, NSD1, PTPN11, RUNX1, RBM8A, SRP72, TERC,
TERT+, THPO, TP53, NBN, PAX5
Aplastic anaemia (including Nijmegan breakage
NBN, PRF1, SBDS, SRP72, TINF2, TERC, TERT+
& Schwachman-Diamond syndrome)
Ataxia telangiectasia
ATM
Bloom syndrome
BLM
Diamond-Blackfan anaemia
RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17,
RPS19, RPS24, RPS26, RPS29, RPS7
Dyskeratosis congenita (including telomere
DKC1, TERC, TERT+, TINF2, NHP2, NOP10, POT1
biology disorders)
Fanconi Anaemia
BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB,
FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI,
FANCL, FANCM, PALB2, RAD51C, SLX4
Rothmund-Thomson Syndrome
RECQL4
Severe congenital neutropenia
CSF3R, ELANE, G6P3C, GFI1, HAX1, WAS
Thrombocytopenia
ANKRD26+, ETV6, HOXA11, RBM8A, RUNX1, WAS
Thromobocythaemia
JAK2, THPO
Version 2.1 (28/03/2016)
Surname:
Page 3 of 3
First Name(s):
NHS No:
OR
Other unit number:
c)
Complete gene 155 list : Custom Selection
AIP
AKT1
ALK
ANKRD26
APC+
ATM
BAP1
BARD1
BLM
BMPR1A
BRCA1
BRCA2
BRIP1
BUB1B
CASR
CBL
CDC73
CDH1
CDK4
CDKN1B
CDKN1C
CDKN2A+
CEBPA
CHEK2
CREBBP
CSF3R
CTRC
CTR9
CYLD
DDX41+
DICER1
DIS3L2
DKC1
EGFR
EGLN1
EGLN2
ELANE
EPCAM*
ERCC4
ETV6
EXT1
EXT2
EZH2
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FH
FLCN
G6PC3
GALNT12
GATA2
GFI1
GPC3
GREM1*
(&SCG5)
HAX1
HNF1A
HOXA11
HOXB13
HRAS
JAK2
KIF1B
KIT
LZTR1
MAX
MEN1
MET
MITF
MLH1
MSH2+
MSH6
MUTYH
NBN
NDUFA13
NF1
NF2
NHP2
NOP10
NSD1
NTHL1
NUDT1
OGG1
PALB2
PAX5
PDE11A
PDE8B
PDGFRA
PHOX2B
PIK3CA
PMS2
POLD1
POLE
POT1
PRF1
PRKAR1A
PTCH1
PTEN
PTPN11
RAD51C
RAD51D
RB1
RBM8A
RECQL4
REST
RET
RHBDF2
RPL11
RPL15
RPL26
RPL35A
RPL5
RPS10
RPS17
RPS19
RPS24
RPS26
RPS29
RPS7
RUNX1
SBDS
SDHA
SDHAF2
SDHB
SDHC
SDHD
SLX4
SMAD4
SMARCB1
SMARCE1
SOS1
SOS2
SPINK1
SPRED1
SRP72
STK11
SUFU
TERC
TERT+
TGFBR1
THPO
TINF2
TMEM127
TP53
TSC1
TSC2
VHL
WAS
WT1
WRN
Notes: Genes listed in red have more limited evidence regarding a role in hereditary cancer. They represent moderate/low
penetrant genes or risk factors where guidelines for clinical management may not be well characterized.
Dosage analysis is performed for all genes using NGS coverage data, any changes detected are confirmed by an independent
method where possible (e.g. MLPA) and details specified at reporting.
*Genes where ONLY dosage assessment performed.
+ Genes where analysis includes regions outside the normal scope of the assay (i.e. normal scope = all coding exons +/- 20bp
flanking intronic sequence; please contact the laboratory or refer to our website for details)