People may have genetic testing through their medical specialist to inform cancer management (referred to as treatment-focused, mainstream, or oncogenetic testing), or through a clinical genetics service or familial cancer centre
Referral to a clinical genetics service or familial cancer centre should be considered for all people meeting the categories below:
| Genetic test results |
| Genetic test results in a breast and/or an ovarian cancer predisposition gene (including but not limited to BRCA1 or BRCA2, TP53, PTEN, STK11, PALB2, CDH1) that warrant referral irrespective of other factors |
| Individual with a pathogenic variant for individual and family genetic counselling and cascade testing |
| Individual with a variant of uncertain significance (VUS) for individual and family genetic counselling (and family variant testing where it may assist in resolving the pathogenicity of the variant) |
| Individual with a negative test result BUT with a personal or family history that raises significant concern for a familial cancer syndrome |
| Untested adult blood relative of a person with an identified pathogenic variant. Predictive testing should never be ordered when only a variant of uncertain significance or benign/likely benign variant has been identified in a family |
| Tumour pathology |
| Characteristics that warrant referral irrespective of other factors |
| Triple negative (TNBC) or basal type breast cancer diagnosed ≤60 years |
TNBC: oestrogen, progesterone and HER2 receptor negative
| For those with a personal history of cancer |
| Individual characteristics that warrant referral irrespective of other factors |
| Male breast cancer at any age |
| Breast cancer and Jewish ancestry |
| Two primary breast cancers in the same person, where the first occurred before age 60 years |
| Breast cancer AND one or more other associated cancers in the same person at any age (e.g. ovarian**, prostate, pancreatic cancer) |
| Breast cancer diagnosed ≤40 years |
| Lobular breast cancer AND diffuse-type gastric cancer (in the same person OR in the same family) |
| Breast cancer diagnosed before age 50 years with limited family structure or knowledge (e.g. adopted, fewer than two first- or second-degree female relatives who lived beyond age 45 years, etc.) |
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Breast cancer and a personal or family history suggestive of:
- Peutz-Jeghers syndrome (oral pigmentation and/or gastrointestinal polyposis)
- PTEN hamartoma syndrome (macrocephaly, specific mucocutaneous lesions, endometrial or thyroid cancer)
- Li-Fraumeni syndrome (breast cancer diagnosed before age 50 years, adrenocortical carcinoma, sarcoma, brain tumours)
- Neurofibromatosis type 1 (NF1) (cutaneous or plexiform neurofibromas, axillary/inguinal freckling, >6 café-au-lait macules, optic pathway glioma or malignant peripheral nerve sheath tumour)
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| For those with a family history of cancer |
| Characteristics sufficient to warrant referral irrespective of other factors |
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Two first or second degree relatives diagnosed with breast or ovarian cancer AND one or more of the following on the same side of the family:*
- additional relative(s) with breast or ovarian cancer
- breast cancer diagnosed before age 50 years
- more than one primary breast cancer in the same person
- breast and ovarian cancer in the same person
- Jewish ancestry
- male breast cancer
- pancreatic cancer
- high grade (> Gleason 7) or metastatic prostate cancer
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Note: If the type of ovarian cancer is not known consider referral. The family cancer clinic will attempt to verify the histological type of ovarian cancer and determine whether testing is appropriate.
*When possible, genetic testing should be performed first on the affected family member.