This site contains the South Australian Clinical Prioritisation Criteria (CPC) for most frequently referred cancer genetics conditions.

Cancer genetic conditions

Please note this is not an exhaustive list of all conditions for outpatient services and does not exclude consideration for referral unless specifically stipulated in the cancer genetic exclusions section.

Out of scope

Not all medical conditions are covered by the CPC, as certain conditions may be considered out of scope or managed by other specialist services:

  • Genetics — refer to Genetics CPC
  • Individuals with a cancer diagnosis in whom somatic (tumour) genetic testing has identified a pathogenic or likely pathogenic variant in a gene where germline pathogenic variants are associated with a rare syndromic phenotype or (risk of) a non-cancer condition, unless the patient has clinical features of that condition – consider referral to Genetics

Exclusions for public specialist outpatient services

Not all ophthalmology conditions are appropriate for referral into the South Australian public health system. The following are not routinely provided in a public specialist outpatient service:

  • Individuals referred for genetic counselling regarding an identified variant in a gene of low or unknown clinical utility
  • Individuals who have not had a cancer referred for genetic testing for cancer predisposition except where a familial variant has been identified in a blood relative or that individual has a relevant clinical feature
  • Individuals who have not had polyps referred solely for a family history of gastrointestinal cancer/polyps
  • Individuals who have undergone germline genetic testing using a direct-to-consumer platform not designed to detect genetic cancer predispositions e.g. ancestry testing
  • Individuals with a cancer diagnosis in whom somatic (tumour) genetic testing has identified a complex tumour molecular phenotype such as a mutation signatures, homologous repair deficiency or tumour mutational burden, except microsatellite instability
  • Individuals with a cancer/tumour not meeting the inclusion criteria
  • Individuals with a personal history of colorectal carcinoma (CRC) with loss of MLH1 and PMS2 on mismatch repair immunohistochemistry and either hypermethylation of the MLH1 promoter or the BRAF V600E variant is detected in the cancer and there is no other personal or family history suggestive of a familial predisposition to cancer
  • Individuals with a personal history of endometrial cancer diagnosed at age 50 years or older with loss of MLH1 and PMS2 on mismatch repair immunohistochemistry AND the presence of MLH1 promoter methylation in tumour and no other personal or family history suggestive of a familial predisposition to endometrial cancer
  • Individuals with personal history of CRC with normal mismatch repair immunohistochemistry and no other personal or family history suggestive of a familial predisposition to cancer
  • Individuals with personal history of endometrial cancer diagnosed at age 50 years or older with normal mismatch repair immunohistochemistry and no other personal or family history suggestive of a familial predisposition to endometrial cancer
  • Sebaceous neoplasm with normal mismatch repair immunohistochemistry (MMR proficient)
  • Single sebaceous neoplasm which is mismatch repair deficient with no personal and or family history of a Lynch Syndrome associated visceral organ cancer
  • Individuals who meet the World Health Organization (WHO) 2019 criteria for serrated polyposis syndrome (SPS) including:
    • at least 5 serrated polyps proximal to the rectum all ≥ 5 mm
      • with at least 2 ≥ 10 mm
    • or > 20 serrated polyps of any size but distributed throughout the colon
      • with at least 5 proximal to the rectum
      • without a dominant family history of SPS or colorectal cancer

Emergency information

See the individual condition pages for more specific emergency information.

Feedback

We welcome requests for further information or feedback on the CPC and website, please refer to the relevant form below.

Please email the completed form to Health.CPC@sa.gov.au.

Review

The Cancer Genetic CPC is due for review in June 2026.

Evidence statement