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Breast 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)
    • Breast cancer with at least one of the following:
      • distant (outside loco-regional areas) metastatic triple negative disease
      • distant (outside loco-regional areas) metastatic disease with a short-predicted life expectancy
      • results of genetic testing (if offered) will influence systemic treatment considerations
      • results of genetic testing (if offered) will influence local treatment considerations in a patient aged < 60 years
      • age ≤ 40 years and not completed local treatment for breast cancer
      • personal and/or family history of Li Fraumeni associated cancer (other than breast cancer) and could be considered for adjuvant radiation
  • Category 2
    (appointment within 90 calendar days)
    • An individual whose referral to GHQ was recommended after review of a relative
    • Tumour testing has identified a potential germline mutation in a familial cancer predisposition gene
    • Breast cancer with at least one of the following:
      • a patient who has a limited life expectancy due to advanced age and/or co-morbidities
      • inflammatory with recent active disease (e.g. within the last 3 years)
      • triple negative (TNBC) confined to loco-regional areas with recent active disease (e.g. within the last 3 years)
      • distant (outside loco-regional areas) ER+/PR+ and/or HER2+ metastatic disease
  • Category 3
    (appointment within 365 calendar days)
    • Breast cancer that does not meet Category 1 or 2 criteria

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 (completed and planned), including planned time frame of radiation and surgery
    • details of prognosis in patients with metastatic disease
    • clear indication of clinical indication for urgency (see above)
    • known details of relevant family history
    • time by which genetic test results required (if offered) to inform local or systemic treatment decisions
  • Relevant pathology (if results are available on Auslab please indicate this on referral)

3. Additional referral information Useful for processing the referral

  • Ethnicity of the patient (particularly Jewish ancestry)
  • If the family is known to GHQ, include the GHQ reference number (GF) if known

4. Request

Last updated: 13 June 2023