All of the people who fall into the categories below may be appropriate for testing through their medical specialist or at a clinical genetics service or familial cancer centre. Refer to eviQ's Guide for health professionals ordering genetic testing.
| Pathogenic variant identified in the family |
| UNTESTED adult blood relative of a person with an identified pathogenic variant in a breast and/or an ovarian cancer predisposition gene (e.g. BRCA1 or BRCA2, TP53, PTEN, STK11, PALB2, CDH1) |
| Tumour pathology |
| Characteristics that warrant referral irrespective of other factors |
| Triple negative breast cancer (TNBC) diagnosed ≤50 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 <60 years |
| Two or more different but associated cancers in the same person at any age (e.g. breast and ovarian cancer) |
| Breast cancer diagnosed ≤40 years |
| Lobular breast cancer AND a family history of lobular breast or diffuse-type gastric cancer |
| Breast cancer diagnosed <50 years with limited family structure or knowledge (e.g. adopted) |
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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 <50 years, adrenocorticocarcinoma, sarcoma, brain tumours).
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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 1st or 2nd degree relatives diagnosed with breast or ovarian cancer plus one or more of the following on the same side of the family:*
- additional relative(s) with breast or ovarian cancer
- breast cancer diagnosed <50 years
- more than one primary breast cancer in the same woman
- breast and ovarian cancer in the same woman
- Jewish ancestry
- breast cancer in a male
- pancreatic cancer
- high grade (> Gleason 7) 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.