Skip links and keyboard navigation

Breast cancer genetics - Affected individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified


If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) or follow local emergency care protocols or seek emergent medical advice if in a remote region.

  • No referrals to emergency relating to clinical genetics
  • The offer of an appointment by GHQ does NOT guarantee that the patient will be offered a publicly funded gene test.
  • Providing information about the timeframe for which genetic consultation and testing (if offered) is required, to assist in ensuring the referral is appropriately prioritised to inform treatment decisions.
  • Due to the lack of evidence for clinical benefit for bilateral mastectomy in women with unilateral breast cancer aged ≥ 60 years regardless of genetic test results, local treatment decisions will only be considered justification for triage as Category 1 for this age group if there is a personal/family history suggestive of Li Fraumeni syndrome.
  • Referral for genetic assessment and counselling is recommended if:
    • breast cancer diagnosed at age ≤ 40 years
    • triple negative breast cancer (TNBC) diagnosed at age ≤ 50 years (TNBC: oestrogen, progesterone and HER2 receptor negative)
    • TNBC at any age AND a personal history of another primary breast cancer
    • lobular breast cancer AND a family history of lobular breast or diffuse-type gastric cancer or cleft lip/palate
    • personal history of two primary breast cancers where the first occurred ≤ 50 years
    • male breast cancer at any age
    • Jewish ancestry
    • breast cancer and a personal or family history suggestive of:
    • reported family history of ovarian cancer
    • a Manchester Score of ≥ 15
  • Tumour testing has identified a potential germline mutation in a familial cancer predisposition gene
  • If the patient is an UNTESTED blood relative of a person with an identified mutation in a cancer predisposition gene please refer to the Untested blood relative condition within the Genetics CPC
  • If the patient has undergone mainstreamed and/or private genetic testing refer to the Mainstreamed or private testing condition within the Genetics CPC
  • Eligibility for publicly funded genetic testing will be determined using eviQ criteria 
  • If the patient fulfils eviQ criteria for genetic testing and has a very limited life expectancy, arrange for two separate blood collections of 2x4mL EDTA tubes each to be sent to the Molecular Genetics Laboratory, Pathology Queensland (RBWH) for “DNA extraction and storage” prior to or at the time of referral. Advise Pathology Queensland that these specimens have been collected in accordance with Genetics Health Queensland protocols.
  • If at the time of pre-clinic contact assessment, it is established that the reason for clinical urgency detailed in the referral is no longer valid, the triage category will be amended accordingly.
  • Patients will be mailed a family history questionnaire to complete and return. Failure to do so may result in removal of the patient from the waitlist.
  • Clinical urgency is the dominant consideration in the prioritisation of a referral for a child currently in out of home care (OOHC), or at risk of entering or leaving OOHC

Clinical resources

Patient resources

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

Patient's Demographic Details

  • Full name (including aliases)
  • Date of birth
  • Residential and postal address
  • Telephone contact number/s – home, mobile and alternative
  • Medicare number (where eligible)
  • Name of the parent or caregiver (if appropriate)
  • Preferred language and interpreter requirements
  • Identifies as Aboriginal and/or Torres Strait Islander

Referring Practitioner Details

  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature

Relevant clinical information about the condition

  • Presenting symptoms (evolution and duration)
  • Physical findings
  • Details of previous treatment (including systemic and topical medications prescribed) including the course and outcome of the treatment
  • Body mass index (BMI)
  • Details of any associated medical conditions which may affect the condition or its treatment (e.g. diabetes), noting these must be stable and controlled prior to referral
  • Current medications and dosages
  • Drug allergies
  • Alcohol, tobacco and other drugs use

Reason for request

  • To establish a diagnosis
  • For treatment or intervention
  • For advice and management
  • For specialist to take over management
  • Reassurance for GP/second opinion
  • For a specified test/investigation the GP can't order, or the patient can't afford or access
  • Reassurance for the patient/family
  • For other reason (e.g. rapidly accelerating disease progression)
  • Clinical judgement indicates a referral for specialist review is necessary

Clinical modifiers

  • Impact on employment
  • Impact on education
  • Impact on home
  • Impact on activities of daily living
  • Impact on ability to care for others
  • Impact on personal frailty or safety
  • Identifies as Aboriginal and/or Torres Strait Islander

Other relevant information

  • Willingness to have surgery (where surgery is a likely intervention)
  • Choice to be treated as a public or private patient
  • Compensable status (e.g. DVA, Work Cover, Motor Vehicle Insurance, etc.)
  • Please note that where appropriate and where available, the referral may be streamed to an associated public allied health and/or nursing service.  Access to some specific services may include initial assessment and management by associated public allied health and/or nursing, which may either facilitate or negate the need to see the public medical specialist.

  • A change in patient circumstance (such as condition deteriorating, or becoming pregnant) may affect the urgency categorisation and should be communicated as soon as possible.

  • Please indicate in the referral if the patient is unable to access mandatory tests or investigations as they incur a cost or are unavailable locally.