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

HCE1004

Test Name

Comprehensive Hereditary Cancer Panel

No. of Genes

134

Panel Content

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

Test Code

HCE1001

Test Name

Hereditary Breast Cancer Panel

No. of Genes

Panel Content

BRCA1, BRCA2, CDH1, PALB2, PTEN, RECQL, STK11, TP53

Test Code

HCE1002

Test Name

Hereditary Breast and Gynaecological Cancer Panel

No. of Genes

Panel Content

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

Test Code

HCE1001b

Test Name

Hereditary Cancer - BRCA1/BRCA2

No. of Genes

Panel Content

BRCA1, BRCA2

Test Code

HCE1003b

Test Name

Hereditary Cancer - Lynch Syndrome Panel

No. of Genes

Panel Content

EPCAM, MLH1, MSH2, MSH6, PMS2

Test Code

HCE1005

Test Name

Hereditary Cancer High Risk Panel

No. of Genes

Panel Content

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

Test Code

HCE1003

Test Name

Hereditary Colorectal Cancer and Polyposis Panel

No. of Genes

Panel Content

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

Test Code

HCE1006

Test Name

Hereditary Endocrine Cancer Panel

No. of Genes

Panel Content

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

Test Code

HCE1007

Test Name

Hereditary Gastrointestinal Cancer Panel

No. of Genes

Panel Content

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

Test Code

HCE1008

Test Name

Hereditary Lung Cancer Panel

No. of Genes

Panel Content

BRCA2, CDKN2A, EGFR, FAM111B, TP53

Test Code

HCE1009

Test Name

Hereditary Melanoma and Skin Cancer Panel

No. of Genes

Panel Content

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

Test Code

HCE1010

Test Name

Hereditary Pancreatic Cancer Panel

No. of Genes

Panel Content

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

Test Code

HCE1013

Test Name

Hereditary Paraganglioma Pheochromocytoma Panel

No. of Genes

Panel Content

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

Test Code

HCE1011

Test Name

Hereditary Prostate Cancer Panel

No. of Genes

Panel Content

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

Test Code

HCE1012

Test Name

Hereditary Renal Cancer Panel

No. of Genes

Panel Content

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

Test Code

HCE1014

Test Name

Neurofibromatosis Panel

No. of Genes

Panel Content

LZTR1, NF1, NF2, SMARCB1