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. Author manuscript; available in PMC: 2019 Sep 17.
Published in final edited form as: J Pathol. 2019 Feb 20;247(5):574–588. doi: 10.1002/path.5229

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)
a.

Recommendations based in the guidelines from the National Comprehensive Cancer Network [71].

b.

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.