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Colorectal or small bowel cancer genetics - Affected individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified


Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • Colorectal or small bowel cancer fulfilling Category 3 criteria with at least one of the following:
      • metastatic disease
      • the nature or extent of surgery will be determined by the results of genetic testing (if offered).
  • Category 2
    (appointment within 90 calendar days)
    • Small bowel cancer fulfilling the Category 2 or 3 criteria for colorectal cancer
    • Colorectal cancer with at least one of the following:
      • diagnosed at age < 40 years
      • A patient who fulfils Category 3 criteria and has a limited life expectancy due to advanced age and/or co-morbidities
      • tumour testing detected abnormal MMR immunohistochemistry or microsatellite instability (MSI) (Link to GHQ website) (except where there is loss of expression of MLH1 and PMS2, and either hypermethylation of the MLH1 promoter or the BRAF V600E mutation is detected in the tumour)
      • features suggestive of Familial Adenomatous Polyposis (FAP):
        • fifty or more (cumulative) adenomatous colorectal polyps at any age
        • personal history of intra-abdominal or abdominal wall desmoid tumour.
    • An individual whose referral to GHQ was recommended after review of a relative
  • Category 3
    (appointment within 365 calendar days)
    • Colorectal cancer with at least one of the following:
      • Diagnosed between 40-50 years of age
      • personal history of a second Lynch syndrome associated tumour or cancer
      • family history of one or more first or second-degree relatives with a Lynch syndrome-associated tumour or cancer, regardless of the age the cancers were diagnosed
      • ten or more (cumulative) adenomatous colorectal polyps at any age
      • reported family history of polyposis syndrome
      • the patient fulfils or is close to fulfilling the diagnostic criteria for serrated polyposis syndrome (SPS)
      • one or more hamartomatous polyps at any age (includes Peutz-Jeughers polyps, juvenile polyps, Cowden polyps)
      • other personal or family history suggestive of:

1. Reason for request Indicate on the referral

  • To establish a diagnosis
  • For treatment or intervention not otherwise accessible to the patient
  • For advice regarding management
  • To engage in an ongoing shared care approach between primary and secondary care
  • Reassurance for GP/second opinion
  • Reassurance for the patient/family
  • For other reason (e.g. rapidly accelerating disease progression)

2. Essential referral information Referral will be returned without this

  • As much detail as possible about the patient's personal history of cancer including the following:
    • type/s of cancer
    • age at diagnosis
    • treatment including outcome
    • prior history of polyps
    • known details of relevant family history
  • if referral is from a specialist, provide relevant pathology including results of IHC for mismatch repair proteins (and of BRAF testing for tumours with loss of MLH1 and PMS2) (if results are available on Auslab please indicate this on referral). If tumour has loss of MLH1 and PMS2 and patient fulfils other criteria for referral (e.g. SPS), please confirm that BRAF testing has been ordered.
  • Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC

3. Additional referral information Useful for processing the referral

  • If the family is known to GHQ, include the GHQ reference number (GF) if known
  • Reports of prior gastroscopies and colonoscopies and pathology of polyps removed

4. Request

Last updated: 13 June 2023