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Young-onset colon cancers often genetic despite no family history

Published on 21 December 2017 back to previous

One in five patients diagnosed with colorectal cancer younger than age 50 showed an inherited genetic predisposition to the disease, yet more than half of these patients lacked a clinical or family history that would typically indicate the need for genetic testing, according to new research.

“Usually when someone is diagnosed with cancer, if there’s no family history of cancer we think the likelihood of an inherited factor is small,” Elena M. Stoffel, MD, MPH, assistant professor of internal medicine at the University of Michigan Medical School and director of the Cancer Genetics Clinic at the University of Michigan Comprehensive Cancer Center, said in a press release. “But our study suggests that even in the absence of a family history of cancer, the prevalence of inherited factors is so high in young colorectal cancer patients that it makes sense to test everyone, as these heritable alterations can impact their care as well as the care of their family members.”

To determine the proportion of young CRCs that have a genetic link, Stoffel and colleagues reviewed data on 430 patients diagnosed with CRC younger than age 50 at the University of Michigan Comprehensive Cancer Center between 1998 and 2015. Overall, 26% had a first-degree relative with CRC, and 10% had tumors with histologic evidence of mismatch repair deficiency.

Further, 73% of the patients underwent clinical germline sequencing, and a quarter of them (18% of total cohort) showed mutations linked to a hereditary cancer syndrome, while 6.7% showed variants of uncertain significance.

Thirteen percent of the entire cohort and 71% of all germline mutations were in DNA mismatch repair genes associated with Lynch syndrome, and 2.3% of the entire cohort and 13% of all germline mutations were in the APC tumor suppressor gene associated with familial adenomatous polyposis.

Thirteen additional patients showed mutations in other cancer-associated genes, most of which were in MUTYH (1.9% of total cohort, 10% of all germline mutations), followed by SMAD4, BRCA1, TP53, and CHEK2.

Additionally, 117 patients who had “negative” clinical genetic evaluations underwent next-generation targeted sequencing using multigene panels, of which 5% showed likely germline variants associated with hereditary cancer syndromes.

Finally, of the 85 total patients who showed germline mutations associated with a hereditary cancer syndrome, only 51% reported a CRC diagnosis in a first-degree relative.

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