Hereditary Cancer


Our laboratory provides genetic testing for patients known or suspected to be at risk of an inherited cancer predisposition syndrome.  We offer both a large multi-gene next-generation sequencing panel and targeted single-gene or single variant testing in a variety of genes associated with hereditary cancer.


Index testing with our Hereditary Cancer Panel (multi-gene NGS panel) is available if a patient’s personal and/or family history is consistent with an inherited cancer predisposition syndrome, such as individuals markedly younger than average age at diagnosis, individuals with multiple and syndromically related primary tumours, multiple family members with the same or related cancers, or patients with rare tumour types. 


Affected and unaffected patients may be eligible for carrier testing (testing for the presence or absence of a single mutation) if a mutation in a gene associated with an inherited cancer predisposition syndrome has been identified in a close relative. 


Testing is also available in certain other situations, including:

  • germline confirmation of variants identified in the course of tumour sequencing tests (e.g. Oncopanel or Myeloid Panel)
  • confirmation of results from research studies
  • testing of tissue or fibroblast cultures for patients who have had a bone marrow transplant or who are affected with known or suspected hematologic disease


Until recently, most hereditary cancer testing at CGL was initiated through a referral to the BC Cancer Hereditary Cancer Program (HCP).  HCP provides genetic counselling and facilitates genetic testing for any BC/Yukon resident who is suspected of an inherited predisposition to cancer.

The HCP referral form can be found on the HCP Referrals page.  If clinically indicated, an Urgent DNA Storage requisition is also available.

Test requests from other Medical Genetics centres in Canada are accepted under some circumstances.  Please contact the laboratory to discuss testing options. 


For patients who meet specific criteria, health care providers outside of the BC Cancer Hereditary Cancer Program can now order multi-gene hereditary cancer testing and disclose the results. See the Mainstreamed Hereditary Cancer Testing information page to learn more about this testing option.


The following non-exclusive list represents the syndromes for which mutation screening (index testing) is routinely available at CGL.  Carrier testing may be available for rarer syndromes on a case by case basis.   

  • Birt-Hogg Dube Syndrome (BHD)
  • Cowden Syndrome (CS)
  • Familial Adenomatous Polyposis (FAP)
  • Hereditary Breast and Ovarian Cancer (HBOC)
  • Hereditary Diffuse Gastric Cancer (HDGC)
  • Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
  • Hereditary Paraganglioma and Pheochromocytoma (PGL1-4)
  • Juvenile Polyposis Syndrome (JPS)
  • Li-Fraumeni Syndrome (LFS)
  • Lynch Syndrome (LS, HNPCC)
  • Multiple Endocrine Neoplasia(Type 1 and Type 2) (MEN1, MEN2); Hirschsprung Disease (HSCR)
  • MutYH Associated Adenomatous Polyposis (MAP)
  • Peutz-Jeghers Syndrome (PJS)
  • Retinoblastoma (RB)
  • von Hippel Lindau Syndrome (VHL)