Familial Adenomatous Polyposis (FAP) is an autosomal dominant hereditary cancer syndrome. Individuals with this condition are prone to the development of polyps in the large bowel with the potential to become cancerous in childhood and in adulthood. The two forms of FAP, classic vs. attenuated, are caused by variants in the same gene but are distinguished based on the number of polyps in affected family members. In addition to FAP, there are other genetic causes of colorectal polyposis that should be considered in individuals with this presentation.
Note: Because medical interventions can prevent severe morbidity and mortality, FAP is on the ACMG list of secondary findings. The ACMG document makes the following recommendations:
ACMG and NSGC Joint Practice Guidelines: Referral Indications for Cancer Predisposition Assessment
GeneReviews – APC-Associated Polyposis Conditions
NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colon
ACOG Committee Opinion 793: Hereditary cancer syndromes and risk assessment.
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