Breast Cancer Risk Assessment and Consideration of Genetic Testing

The following people warrant a referral to the NZ Family Cancer Service

UNTESTED adult blood relative of a person with an identified mutation in a breast cancer predisposition gene (e.g. BRCA1, BRCA2 gene, TP53, CDH1, PTEN, STK11).

Tumour pathology – characteristics that warrant referral irrespective of other factors

• Triple negative breast cancer diagnosed < 50y (oestrogen, progesterone and HER2 negative)
• High grade, non-mucinous epithelial ovarian*, fallopian tube or primary peritoneal adenocarcinoma
• Lobular breast cancer and a family history of lobular breast cancer or diffuse-type gastric cancer

For those with a personal history of cancer – individual characteristics that warrant referral irrespective of other factors

• Male breast cancer at any age
• Two primary breast cancers where the first occurred <50 years
• Two or more different primary tumours in the same person at any age (e.g. breast and ovarian)
• Breast cancer <40 years
• High-grade, non-mucinous epithelial ovarian*, fallopian tube or primary peritoneal adenocarcinoma
• Breast cancer and a personal or family history suggestive of:
  • Peutz Jegher Syndrome (oral pigmentation and/or GI polyps)
  • PTEN Hamartoma Syndrome (specific mucocutaneous lesions, macrocephaly, thyroid or endometrial cancer)
  • Li Fraumeni Syndrome (breast cancer <50 years, sarcoma, brain tumours, adrenocorticocarcinoma)

For those with a family history of cancer – characteristics sufficient to warrant referral irrespective of other factors

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

*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 the appropriateness of testing.