. Author manuscript; available in PMC: 2020 Jul 6.

Published in final edited form as: J Pediatr Gastroenterol Nutr. 2019 Sep;69(3):273–280. doi: 10.1097/MPG.0000000000002421

TABLE 2.

Suggested familial screening in pediatric polyposis syndromes

Syndrome	Familial targeted testing	Familial screening	Familial screening interval (if first negative)
Familial adenomatous polyposis	APC	Genetic testing only^*
Juvenile polyposis syndrome	SMAD4 and BMPR1A	If genetic testing negative in proband, screening colonoscopy/endoscopy at 15 years in first degree family members	5 years
Peutz-Jeghers syndrome	STK11	If genetic testing negative in proband, screening colonoscopy/endoscopy at 15 years in first degree family members	5 years
PTEN hamartomas tumor syndrome	PTEN	Genetic testing only^*
Constitutional mismatch repair Deficiency	PMS2, MLH1, MSH2, MSH6	Genetic testing only^*
10p23 deletion	10p23 deletion	Genetic testing only^*
Hereditary mixed polyposis	GREM1	Genetic testing only^*
Serrated polyposis	None	First degree relatives: (earliest of following) ages 40, 10 years before earliest CRC diagnosis, age of earliest diagnosis of serrated polyposis	Every 5 years

In those listed as “genetic testing only,” the presumption is that the grand majority of affected individuals have a mutation in a known gene; should amutation not be identified despite clear clinical phenotype, we recommend evaluation of first-degree family members at 10 years before phenotype onset in proband.