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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

ADULT PAEDIATRIC

If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) 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, can assist in ensuring the referral is appropriately prioritised to inform treatment decisions.
  • 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 first or second degree relative with breast cancer
    • lobular breast cancer AND a family history of lobular breast or diffuse-type gastric cancer
    • personal history of two primary breast cancers where the first occurred ≤ 50 years
    • male breast cancer at any age
    • Jewish or Dutch ancestry
    • breast cancer and a personal or family history suggestive of:
    • reported family history of ovarian cancer
    • a Manchester Score of ≥ 15
  • 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 (See criteria for BRCA1/2, TP53, CDH1, PTEN, STK11)
  • Patients will be asked to provide detailed family information either during a telephone consultation (if urgent) or via a family history questionnaire (Cat 3). One or more Consent to Release information forms may be provided to forward to family members to obtain their consent to confirm details of the reported family history
  • GHQ will facilitate self-funded BRCA1 and BRCA1 gene testing for patients who do not qualify for publicly funded gene testing and wish to pursue this option after genetic counselling
  • 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.

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 disease
      • results of genetic testing (if offered) will influence local or systemic treatment considerations
      • breast and ovarian cancer in the same patient
      • age ≤ 30 years and/or a family history of Li Fraumeni associated cancer and planned for adjuvant radiation
  • Category 2
    (appointment within 90 calendar days)
    • 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
      • triple negative (TNBC)
  • 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)
  • relevant pathology (if results are available on Auslab please indicate this on referral)
  • clear indication of clinical indication for urgency (see above)
  • known details of relevant family history

3. Additional referral information Useful for processing the referral

  • Time by which genetic test results required (if offered) to inform local or systemic treatment decisions
  • Ethnicity of the patient (particularly Jewish or Dutch 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.