“The prevalence of hereditary cancer syndromes among early-onset colorectal cancer patients – including Lynch syndrome – was quite high, which presents a tremendous opportunity for us to save lives through early detection based on genomic risk factors,”
Based on this new data, the OSUCCC – James research team recommends genetic counseling and a broad, multi-gene panel test of cancer susceptibility genes for all early-onset colorectal cancer patients, regardless of family history or the results of tumor screening for Lynch syndrome. This differs from current professional guidelines, which recommend all colorectal cancer patients be screened for Lynch syndrome, with referral for genetic counseling and Lynch syndrome-specific genetic testing if the tumor-screening test is abnormal.
“We expected to find a high rate of Lynch syndrome among these early-onset colon cancer patients. What was surprising were some of the other gene mutations found in the young colorectal cancer patients, including mutations in genes traditionally linked to breast cancer risk, even in patients whose family history was not suggestive of those mutations,”
Lynch Syndrome Ireland 