ACG Clinical Guideline: Diagnosis and Management of Adenomatous Colorectal Polyposis Syndromes.
Reinforcessuggested applicable standard· American College of Gastroenterology (Syngal S, Brand RE, Church JM, Kastrinos F, Lynch PM, Rubenstein JH). ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes. Am J Gastroenterol, 2015 (Recommendations 10 and 11).
Decision at stakethe timing and modality of genetic testing and surveillance in hereditary adenomatous polyposis syndromes
All patients meeting clinical criteria for, or carrying a pathogenic germline variant of, a hereditary GI cancer syndrome should have pre- and post-test genetic counseling, and at-risk first-degree relatives should be offered genetic testing. …
From our summary of this standard, unedited — the part the paper bears on. … marks omitted text. Our wording, not the guideline's; read the source for its own text.
Our full summary of this standard
All patients meeting clinical criteria for, or carrying a pathogenic germline variant of, a hereditary GI cancer syndrome should have pre- and post-test genetic counseling, and at-risk first-degree relatives should be offered genetic testing. Syndrome-specific surveillance: LYNCH SYNDROME, colonoscopy at least every 2 years (annual colonoscopy should be considered in confirmed mutation carriers), beginning at age 20-25 years, or 2-5 years before the earliest CRC diagnosis in the family if that was before age 25; baseline EGD with gastric biopsy and test-and-treat for H. pylori at age 30-35, with ongoing upper-GI surveillance every 3-5 years where family history of gastric/duodenal cancer exists; annual endometrial biopsy and transvaginal ultrasound from age 30-35, with prophylactic hysterectomy/bilateral salpingo-oophorectomy offered after childbearing; surveillance BEYOND population-based recommendations for the urinary tract, pancreas, breast and prostate is NOT recommended unless supported by family history. CLASSIC FAP, annual sigmoidoscopy or colonoscopy beginning at puberty; colectomy indicated for documented/suspected cancer or significant symptoms (absolute), or for relative indications such as multiple adenomas >6 mm or a significant increase in adenoma number that make endoscopic control unfeasible; upper-GI surveillance by EGD/duodenoscopy from age 25-30, repeated every 0.5-4 years by Spigelman stage, plus annual thyroid ultrasound. AFAP, surveillance by colonoscopy (not sigmoidoscopy, as polyps are right-sided) with polypectomy every 1-2 years, beginning in the late teens to early 20s; upper-GI surveillance by EGD/duodenoscopy from age 25-30, repeated every 0.5-4 years by Spigelman stage, plus annual thyroid ultrasound (as for classic FAP). MUTYH-ASSOCIATED POLYPOSIS (biallelic MUTYH), colonoscopy every 1-2 years beginning at age 25-30; upper-GI surveillance by EGD/duodenoscopy from age 25-30, repeated every 0.5-4 years by Spigelman stage, plus annual thyroid ultrasound (as for classic FAP). SERRATED POLYPOSIS SYNDROME, colonoscopy every 1-3 years with attempted removal of all polyps >5 mm.