Version 4.0 (04/07/2017)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:OROther unit number:
Comments:
Version 4.0 (04/07/2017)Page 1 of 3
Requesting Clinician Print:
Signature: ______
Version 4.0 (04/07/2017)Page 1 of 3
Please select genes for next generationsequence and dosage analysis by:
a)Check the box for panel(s) required - from inherited cancer, additional phenotypes, inherited haematological panels sections or
b)Check a customised selection of genes from the full 155gene list
Please send this menu, with our referral form ( 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 / Phenotype: / Genes+ and * genes - See notes on page 3
Bowel cancer / APC+, BMPR1A, EPCAM*, GREM1*, MLH1, MSH2+, MSH6, MUTYH, NTHL1, PMS2, POLD1,POLE, PTEN, SMAD4, STK11
Breast cancer / ATM, BRCA1, BRCA2, CHEK2 (c.1100del only), PALB2, PTEN, STK11, TP53
Ovarian cancer / BRCA1, BRCA2, BRIP1, MLH1, MSH2+, MSH6, RAD51C, RAD51D
Kidney cancer / BAP1, 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
Pancreatic cancer / BRCA2, CDK4, CDKN2A+, PALB2, STK11
Skin cancer, melanoma / BAP1, BRCA2, CDK4, CDKN2A+, POLE,POT1, TERT+
Uterine cancer / FH, MLH1, MSH2+, MSH6,PMS2, PTEN, STK11
Endocrine panels
Adrenal hyperplasia / PDE8B, PDE11A, PRKAR1A
Hyperparathyroidism, hypercalcaemia / MEN1, RET, CDKN1B, CDC73, CASR
Pituitary tumour / AIP, MEN1, PRKAR1A
Pheochromocytoma, paraganglioma / EGLN1, EGLN2, KIF1B, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Surname:First Name(s):
NHS No:OROther unit number:
Panel Required / Additional phenotypes available / Gene(s)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
Panel(s) Required / Inherited haematological disorders / Gene(s)
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 breakageShwachman-Diamond syndrome) / NBN, PRF1, SBDS, SRP72, TINF2, TERC, TERT+
Ataxia telangiectasia / ATM
Bloom syndrome / BLM
Diamond-Blackfan anaemia / RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7
Dyskeratosiscongenita(including telomere biology disorders) / DKC1, TERC, TERT+, TINF2, NHP2, NOP10, POT1
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
Surname:First Name(s):
NHS No:OROther unit number:
c)
Completegene 155list: Custom Selection
Version 4.0 (04/07/2017)Page 1 of 3
Version 4.0 (04/07/2017)Page 1 of 3
AIPAKT1
ALK
ANKRD26
APC+
ATM
BAP1
BARD1
BLM
BMPR1A
BRCA1
BRCA2
BRIP1
BUB1B
CASR
CBL
CDC73
CDH1
CDK4
CDKN1B
CDKN1C
CDKN2A+
CEBPA
CHEK2
CHEK2 c.1100del
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*
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
Version 4.0 (04/07/2017)Page 1 of 3
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) anddetails specified at reporting.
*Genes where ONLY dosage assessment performed.
+ Genes where analysis includes regions outside the normal scopeof the assay (i.e. normal scope = all coding exons +/- 20bp flanking intronic sequence; please contact the laboratory or refer to our website for details)