RNF43 gene Overview

Serrated Polyposis Syndrome (SPS) 

Mutations in RNF43 have been found in some individuals with a clinical diagnosis of Serrated Polyposis Syndrome (SPS).

Individuals with SPS develop multiple and/or large polyps in the colon and rectum. These can be hyperplastic polyps, serrated polyps, or sessile serrated adenomas. The World Health Organization (WHO) has developed detailed criteria for a clinical diagnosis of SPS (see Guarinos C et al., World J Gastroenterol. 2012 18:2452-61).

Individuals with SPS are believed to have a significantly increased risk for colorectal cancer. The exact size of this risk is not known, and it is not known if this risk is present in individuals with mutations in RNF43 who do not have a clinical diagnosis of SPS.

Although there may be an increased risk for colorectal cancer in individuals with mutations in RNF43, it may be possible to reduce this risk with appropriate medical management. Since information about the cancer risks associated with RNF43 mutations is relatively new, and there is uncertainty about the best ways to reduce these risks, it may be appropriate to interpret these results in consultation with cancer genetics professionals who have expertise in this emerging area of knowledge.

Summary Cancer Risk Table

 

CANCER  GENETIC CANCER RISK 
Colorectal Elevated Risk

Gene Cancer Risk Table

 

CANCER TYPE AGE RANGE CANCER RISK RISK FOR GENERAL POPULATION
Colorectal To Age 80 Elevated risk 3.0%

Cancer Risk Management Table

 

CANCER TYPE PROCEDURE AGE TO BEGIN FREQUENCY
Colorectal RNF43 mutation carriers who do meet WHO criteria for a diagnosis of SPS should be managed based on guidelines from NCCN and other professional societies. These guidelines include recommendations for frequent colonoscopy screenings, beginning at young ages, and surgical evaluation based on family history and personal polyp history When identified as meeting WHO criteria for SPS N/A
  Currently there are no specific management guidelines for colorectal cancer risk in RNF43 mutation carriers who do not meet WHO criteria for a diagnosis of SPS. However, the possibility of an increased risk for colorectal cancer warrants consideration of individualized colorectal cancer risk-reduction strategies, such as the modification of standard population screening recommendations by starting screening at younger ages and/or performing screening more frequently. N/A N/A