Swiss guidelines for referral individuals for risk assessment, genetic counselling and testing for breast/ovarian cancer predisposition syndrome
I. Individuals with a close relative1 with a known pathogenic variant in BRCA1 or BRCA2, or in another gene conferring high risk for breast and ovarian cancer.
II. WOMEN with a personal history of BREAST CANCER and one of the following:
– Age at diagnosis <40 years;
– Triple negative (oestrogen receptor, progesterone receptor and HER2 negative) breast cancer ≤60 years;
– Age at diagnosis ≤50 years, with ≥2 close relatives1 with breast cancer at any age or with only 1 close relative1 with breast cancer ≤50 years;
– Bilateral breast cancer, if the first cancer was diagnosed ≤50 years;
– Bilateral breast cancer at any age, with ≥1 close relative1 with breast cancer [if only one relative affected, then age at diagnosis ≤50 years];
– Diagnosed at any age, with ≥1 close relative1 with ovarian2 cancer at any age;
– Diagnosed at any age, with ≥2 close relatives1 with breast cancer [particularly if ≥1 breast cancer diagnosed ≤50 years or if bilateral breast cancer];
– A close male relative1 with breast cancer (any age);
– A personal history of ovarian2 cancer;
III. Women with a personal history of OVARIAN2 CANCER and one of the following:
– Non-mucinous epithelial subtypes, particularly high grade serous histology, at any age;
– A personal history of breast cancer;
– One or more close relatives1 with ovarian2 cancer (any age);
– One or more close female or male relatives1 with breast cancer, particularly if breast cancer diagnosed ≤50 years;
IV. MEN with a personal history of BREAST CANCER:
– Particularly, if one or more close male relatives1 with breast cancer;
– Particularly, if one or more close female relatives1 with breast or ovarian2 cancer;
V. Ashkenazi Jewish heritage:
Search for the 3 founder BRCA1 and BRCA2 pathogenic variants3 regardless of personal or family history;
VI. Family history only (i.e. unaffected individuals):
One or more close relatives1 with breast or ovarian2 cancer fulfilling one of the above criteria (points II–IV).
1 Close relative is defined as a first- or a second-degree relative on the same side of the family:
– first-degree relatives: mother/father, sister/brother, daughter/son;
– second-degree relatives: grandparents, aunt/uncle, niece/nephew, grandchildren.
2 Ovarian cancer also includes primary peritoneal cancer and fallopian tube cancer.
3 BRCA1: c.68_69delAG, c.5266dupC; BRCA2: c.5946delT.