Table 2.
Colonoscopy surveillance recommendations for individuals with germline pathogenic variants (high penetrance syndromes) [130].
Syndrome (Gene) | Family history of CRC | Age at CRC screening initiation | Screening interval if no adenomas |
---|---|---|---|
No mutationa | No | 50 | 10 years |
Yes (≥1 FDR) | 40b | 5–10 years | |
FAP (APC) | N/A | 10–15 | 1 year, colectomy if polyps too numerous |
Lynch syndrome (MLH1, MSH2, MSH6, PMS2) | N/A | 20–25 | 1–2 years until age 40, then every 1 year |
MAP (MUTYH Biallelic) | N/A | 25–30 | 1–3 years depending on polyp burden |
Juvenile polyposis (SMAD4, BMPR1A) | N/A | 15 | 1–3 years depending on polyp burden |
Peutz-Jeghers (STK11) | N/A | 15 | 2–3 years depending on polyp burden |
Li Fraumeni (TP53) | N/A | 20–25 | 3 years |
Hereditary Breast | No | 50 | 10 years |
Ovarian Cancer | Yes | 50 or per family history | 5 years |
(BRCA1/BRCA2) |
Recommendations based in the guidelines from the National Comprehensive Cancer Network [71].
40 years old or 10 years earlier than the youngest-onset CRC in the family.
Abbreviations: CRC, colorectal cancer; FDR, first-degree relative; SDR, second-degree relative.