Familial cancer services

The Familial Cancer Section performs testing for a broad range of inherited cancer predisposition conditions including diagnostic, presymptomatic and other family studies. Testing methodologies include direct sequencing (using both next generation and Sanger as appropriate) and MLPA analysis as well as more specialist tests including RNA and tumour analysis.

The service utilises the 94 gene TruSight Cancer Panel (Illumina) for the vast majority of single gene and panel test referrals. The use of a single next generation sequencing pipeline facilitates more rapid turnaround times as well as the capability to re-analyse additional genes on request. Please see the gene content of this panel below:

TruSight Cancer Panel
AIP CDH1 EPCAM FANCE KIT PALB2 RET SUFU
ALK CDK4 ERCC2 FANCF MAX PHOX2B RHBDF2 TMEM127
APC CDKN1C ERCC3 FANCG MEN1 PMS1 RUNX1 TP53
ATM CDKN2A ERCC4 FANCI MET PMS2 SBDS TSC1
BAP1 CEBPA ERCC5 FANCL MLH1 PRF1 SDHAF2 TSC2
BLM CEP57 EXT1 FANCM MSH2 PRKAR1A SDHB VHL
BMPR1A CHEK2 EXT2 FH MSH6 PTCH1 SDHC WRN
BRCA1 CYLD EZH2 FLCN MUTYH PTEN SDHD WT1
BRCA2 DDB2 FANCA GATA2 NBN RAD51C SLX4 XPA
BRIP1 DICER1 FANCB GPC3 NF1 RAD51D SMAD4 XPC
BUB1B DIS3L2 FANCC HNF1A NF2 RB1 SMARCB1  
CDC73 EGFR FANCD2 HRAS NSD1 RECQL4 STK11  

Panel tests are available for many cancers including breast cancer, Lynch syndrome, polyposis, renal cell carcinoma, pheochromocytoma/paraganglioma, and tuberous sclerosis (please see table below for further details):

Gene Panels*

Gene Panels
Condition Genes MLPA
FAMMM CDKN2A, CDK4, BAP1 0
Familial Breast/Ovarian Cancer (2 genes) BRCA1, BRCA2 2
Familial Breast/Ovarian Cancer (3 genes) BRCA1, BRCA2, TP53 3
Familial Breast/Ovarian Cancer (3 genes) BRCA1, BRCA2, PALB2 2
Familial Breast/Ovarian Cancer (4 genes) BRCA1, BRCA2, PALB2, TP53  3
Familial Breast/Ovarian Cancer (15 genes) ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 2
Colorectal Cancer (5 genes) MSH2, MLH1, MSH6, MUTYH, APC 3
Colorectal Cancer (6 genes) MSH2, MLH1, MSH6, MUTYH, APC, PMS2 4
Gorlin syndrome PTCH1, SUFU 1
Lynch syndrome (2 genes) MLH1, MSH2 1
Lynch syndrome (2 genes) MSH2, MSH6 2
Lynch syndrome (3 genes) MLH1, MSH2, MSH6 2
Lynch syndrome (4 genes) MLH1, MSH2, MSH6, PMS2 3
Familial Pheochromocytoma / Paraganglioma (9 genes) SDHB, SDHC, SDHD, RET, VHL, MAX, TMEM127, SDHAF2, FH 2
Polyposis (2 genes) APC, MUTYH 1
Polyposis (2 genes) BMPR1A, SMAD4 0
Polyposis (4 genes) APC, MUTYH, BMPR1A, SMAD4 1
Renal Cell Carcinoma (5 genes) SDHB, VHL, FLCN, MET, FH 3
Tuberous Sclerosis (2 genes) TSC1, TSC2 2

*Custom panels are also available on request.