Table 2 Possible indications of referrals for hereditary cancer risk assessment
From: Hereditary cancer risk assessment: essential tools for a better approach
Personal history | Family history |
|---|---|
Early onset of cancer diagnosis (e.g. breast cancer < 45 years, colorectal cancer < 50 years) | Three close relatives (same side) with cancer of the same or syndromically related type (breast/ovary, colorectal/endometrium) |
Multiple associated primary cancers: breast/ovary, colorectal/endometrium | Two close relatives (same side) with cancer of the same or related type with at least one affected under 50 years |
Male breast cancer | One first-degree relative with early onset cancer (breast < 45 years, colorectal < 50 years) |
Ovarian, fallopian tube, primary peritoneal cancer | One first-degree relative with multiple primary cancers |
Breast cancer and thyroid, sarcoma, adrenocortical carcinoma | Two or more relatives with uncommon cancers (sarcoma, glioma, hemangioblastoma, etc.) |
Multiple colon polyps (>10 cumulative) | Relatives of patients with known BRCA, APC, MUTYH, mismatch repair mutations |
Colorectal or endometrial cancer with microsattelite instability and/or lack of expression of mismatch repair protein(s) by immunohistochemistry | Many relatives with cancer but no criteria for testing are fulfilled |