Cancer is a leading cause of death worldwide and it has been estimated that 5-10% of all cancers are hereditary i.e. passed down from one generation to the next. Genetic Testing for the presence of germline genetic variants provides many benefits to patients and their family members and forms an important part of cancer care.

Genetic testing for hereditary cancer can help you, the healthcare practitioner, to:

Identify patients who are at risk of developing cancer, enabling them to take preventative measures where possible.
Closely monitor patients with a known cancer predisposition thereby facilitating early detection and treatment, which is known to have a positive impact on patient outcomes.
Identify and access targeted therapies that may benefit your patient.
Identify family members who may also be a risk, roll out cascade testing, and begin taking preventative measures where appropriate.
Direct your patients towards helpful patient resources and support groups.
Assist your patients with family planning.

Hereditary Cancer Gene Panel Tests available at Genseq

Genseq offer a range of Hereditary Cancer gene panels (see table below). These are in silico panels based on whole exome sequencing (WES) data. All panels include single nucleotide variants (SNV), small insertions/deletions (indels), and copy number variation (CNV) analysis.

Test Code

Test Name

No. of Genes

Panel Content

HCE1004

Comprehensive Hereditary Cancer Panel

134

ABRAXAS1, ACD, AIP, AKT1, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, CBL, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CDKN2B, CHEK2, CTC1, CTNNA1, DDB2, DICER1, DKC1, EGFR, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, FAM111B, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, FANCM, FH, FLCN, GREM1, HOXB13, HRAS, KIF1B, KIT, KITLG, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NRAS, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POLH, POT1, PPP1CB, PRKAR1A, PRSS1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RB1, RECQL, RET, RIT1, RNF43, RTEL1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPINK1, SPRED1, STK11, SUFU, TERC, TERF2IP, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2

HCE1001

Hereditary Breast Cancer Panel

ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

HCE1002

Hereditary Breast and Gynaecological Cancer Panel

ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCM, MLH1, MRE11, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, SMARCA4, STK11, TP53, XRCC2

HCE1001b

Hereditary Cancer - BRCA1/BRCA2

BRCA1, BRCA2

HCE1003b

Hereditary Cancer - Lynch Syndrome Panel

EPCAM, MLH1, MSH2, MSH6, PMS2

HCE1005

Hereditary Cancer High Risk Panel

APC, ATM, BAP1, BMPR1A, BRCA1, BRCA2, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RET, SMAD4, STK11, TP53, VHL

HCE1003

Hereditary Colorectal Cancer and Polyposis Panel

APC, AXIN2, BLM, BMPR1A, CDH1, EPCAM, GREM1, MBD4, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

HCE1006

Hereditary Endocrine Cancer Panel

AIP, APC, CDC73, CDKN1B, DICER1, FH, MAX, MEN1, MET, NF1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL, WRN

HCE1007

Hereditary Gastrointestinal Cancer Panel

APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, KIT, MLH1, MSH2, MSH6, MUTYH, PALB2, PDGFRA, PMS2, SMAD4, STK11, TP53

HCE1008

Hereditary Lung Cancer Panel

BRCA2, CDKN2A, EGFR, FAM111B, TP53

HCE1009

Hereditary Melanoma and Skin Cancer Panel

ACD, BAP1, BRCA1, BRCA2, CDK4, CDKN2A, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, MITF, POT1, PTCH1, PTEN, SUFU, TERF2IP, TERT, TP53, WRN, XPA, XPC

HCE1010

Hereditary Pancreatic Cancer Panel

APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

HCE1013

Hereditary Paraganglioma Pheochromocytoma Panel

FH, KIF1B, MAX, MEN1, NF1, PRKAR1A, RET,SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

HCE1011

Hereditary Prostate Cancer Panel

ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, TP53

HCE1012

Hereditary Renal Cancer Panel

BAP1, CDKN2B, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TMEM127, TP53, TSC1, TSC2, VHL

HCE1014

Neurofibromatosis Panel

LZTR1, NF1, NF2, SMARCB1