Version 01/03/2015
Page 1 of 2
Cancer gene panel – menu of genes for analysis
Patient Details (minimum requirement: full name and NHS number or other identifier on both 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) Check the box for cancer panel required
b) If required, check any additional genes from the additional genes selection
or
c) Check a customised selection of genes from the full 80 gene list
Please send this menu, with our referral form (http://www.leedsth.nhs.uk/a-z-of-services/molecular-genetics/sendingsamples-to-the-laboratory/) and sample to:
Yorkshire Regional DNA Laboratory, 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
Cancer panel required:
Genes
Bowel, HNPCC, polyposis
APC, BMPR1A, MLH1, MSH2, MSH6, MUTYH, PMS2, SMAD4,
STK11.
Breast including ovary
BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53
Fanconi Anaemia
BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2,
FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2,
RAD51C, SLX4
Kidney
FH, FLCN, MET, PTEN, SDHB, STK11, VHL
Neurofibromatosis, schwannomas and café au lait
NF1, NF2, SMARCB1, SMARCE1, SPRED1
Pancreas
BRCA2, CDK4, CDKN2A, CTRC, SPINK1, STK11
Pituitary cancer, parathyroid, hypercalcaemia
AIP, CASR, CDC73, CDKN1B, MEN1, PRKAR1A, RET
Pheochromocytoma and paraganglioma
MAX, NF1, PRKAR1A, RET, SDHA, SDHAF2, SDHB, SDHC,
SDHD, TMEM127, VHL
Skin cancer melanoma
BRCA2, CDK4, CDKN2A
Uterus
FH, MLH1, MSH2, MSH6, PMS2, PTEN, STK11
b)
Additional genes available
DICER1-pleuropulmonary blastoma familial tumour
predisposition syndrome
DICER1
Diffuse gastric cancer
CDH1
Nevoid basal cell carcinoma syndrome
PTCH1
Retinoblastoma
RB1
Wilms tumour
WT1, CDC73
Version 01/03/2015
Surname:
Page 2 of 2
First Name(s):
NHS No:
OR
Other unit number:
c)
Full 80 gene list : Custom Selection
AIP
AKT1
ALK
APC
ATM
BAP1
BARD1
BMPR1A
BRCA1
BRCA2
BRIP1
CASR
CDC73
CDH1
CDK4
CDKN1B
CDKN2A
CHEK2
CTRC
DICER1
ERCC4
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FH
FLCN
GALNT12
HOXB13
KIF1B
KIT
MAX
MEN1
MET
MITF
MLH1
MSH2
MSH6
MUTYH
NDUFA13
NF1
NF2
PALB2
PDGFRA
PHOX2B
PIK3CA
PMS2
POLD1
POLE
PRKAR1A
PTCH1
PTEN
RAD51C
RAD51D
RB1
RET
RHBDF2
SDHA
SDHAF2
SDHB
SDHC
SDHD
SLX4
SMAD4
SMARCB1
SMARCE1
SPINK1
SPRED1
STK11
SUFU
TMEM127
TP53
VHL
WT1
Notes: Genes listed in red have more limited evidence regarding a role in hereditary cancer. They represent moderate/low
penetrant genes and/or 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 (e.g. MLPA) and details specified at reporting.