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:
| 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*
| 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.