Single Site COLARIS AP®
ONE MYH MUTATION DETECTED
 This result means that the test found a deleterious mutation in one of the MYH genes. Currently, it is unclear whether patients who are found to carry a single MYH mutation are at increased risk for colorectal adenomas and/or cancer. It does appear that any increase in risk is small and is associated with a later age of onset.
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COLARIS AP® One MYH Mutation Detected
Medical Management Recommendations
It has been recommended that the medical management of individuals who have a single deleterious MYH mutations be determined by clinical findings and personal/family history of colorectal adenomas and/or cancer. Baseline colonoscopy has been suggested in these individuals and, if negative, repeat colonoscopy at regular intervals.
Implications for Family Members
There is a 50% chance that this patient's children will also be carriers of one MYH mutation. If the patient's partner is European, there is a 2% chance that he/she will also carry a single MYH mutation. If this partner is truly a carrier, the patient's children will have a 25% risk to carry biallelic MYH mutations, one from each parent. There are currently no recommendations with regards to carrier genetic testing in partners of patients who carry a single MYH mutation.
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