Hereditary Cancer Syndromes > GALNT12, RPS20
GALNT12 gene Overview
GALNT12-associated Cancer Risk
Mutations in GALNT12 have been found in individuals and families with a history of colorectal polyps and colorectal cancer.
There is evidence that some individuals with GALNT12 mutations have a moderately increased risk for colorectal cancer. The exact size of this risk is not known.
There are currently no guidelines for the medical management of individuals with mutations in GALNT12. Since information about the cancer risks associated with GALNT12 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.
RPS20 gene Overview
RPS20-associated Cancer Risk
A mutation in RPS20 has been found in one large Finnish family including many individuals who have had colorectal cancer. Additional RPS20 mutations have been found in a small number of individuals suspected of having an inherited risk for colorectal cancer.
Based on the information from the Finnish family, and the small number of individual cases, there is some evidence that individuals with RPS20 mutations have a significantly increased risk for colorectal cancer. The exact size of this risk is unknown, and it is not certain that this risk applies to all RPS20 mutations.
There are currently no guidelines for the medical management of individuals with mutations in RPS20. Since information about the cancer risks associated with RPS20 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.
CANCER TYPE
AGE RANGE
CANCER RISK
RISK FOR GENERAL POPULATION
Colorectal
To age 80
Elevated risk
3.0%
CANCER TYPE
PROCEDURE
AGE TO BEGIN
FREQUENCY
Colorectal
Currently there are no medical management guidelines for colorectal cancer risk in mutation carriers. However, the possibility of an increased risk for colorectal cancer may warrant consideration of individualized risk-reduction strategies, such as the modification of standard population screening recommendations by starting screening at younger ages and/or performing screenings at greater frequency.
NA
NA