Hereditary Cancer Gene Panels

Genetic Testing in Hereditary Cancer

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

HCE1001

Test Name

Hereditary Breast Cancer Panel

No. of Genes

8

Panel Content

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

Test Code

HCE1002

Test Name

Hereditary Breast and Gynaecological Cancer Panel

No. of Genes

28

Panel Content

ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCM, MLH1, MRE11A, 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

2

Panel Content

BRCA1, BRCA2

Test Code

HCE1003b

Test Name

Hereditary Cancer - Lynch Syndrome Panel

No. of Genes

5

Panel Content

EPCAM, MLH1, MSH2, MSH6, PMS2

Test Code

HCE1003

Test Name

Hereditary Colorectal Cancer and Polyposis Panel

No. of Genes

21

Panel Content

APC, AXIN2, BLM, BMPRIA, CDH1A, EPCAM, GREM1, MBD4, MLH1, MSH2, MSH3, MSH6, MUTYH1, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

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