Content:
The following characteristics warrant referral to genetic screening services, irrespective of other factors.
Breast cancer
Untested adult blood relatives of a person with an identified mutation in a breast and/or ovarian cancer predisposition gene, e.g. BRCA1, BRCA2, TP53, PTEN, STK11.
Personal history
- Triple negative breast cancer (ER, PR and HER2-negative) diagnosed under the age of 50
- High grade, non-mucinous, epithelial ovarian, fallopian tube or primary peritoneal cancer
- Lobular breast cancer and a family history of lobular breast or diffuse-type gastric cancer
- Breast cancer diagnosed under 40
- Male breast cancer diagnosed at any age
- Breast and ovarian cancer primary cancers at any age
- Two primary breast cancers where the first occurred under 60
- Breast cancer diagnosed under 50 years with limited family structure/knowledge (e.g. adopted)
- Breast cancer plus personal or family history of:
- Peutz Jegher 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)
- Breast cancer and Jewish ancestry
Family history
Two first- or second-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 under 50
- More than one primary breast cancer in the same woman
- Breast and ovarian cancer in the same woman
- Breast cancer in a male
- Jewish ancestry
It’s recommended that patients access genetic counselling before and after genetic testing, to properly assess their risk and discuss the significance of their results.
