Germline genetic testing finds heritable gene mutations in colorectal cancer
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Multi-gene panel testing in colorectal cancer led to significant detection of heritable gene mutations compared with guideline-based testing, according to research published in Clinical Gastroenterology and Hepatology.
“Identification of genes related to the development or inheritance of cancer can have important implications in the selection of targeted treatments and in the screening of affected populations. The prevalence of germline genomic alterations related to the development of colorectal carcinoma has been assessed in multiple studies with estimates of at least 10% of CRC patients,” Pedro Uson Junior, division of hematology and medical oncology at Mayo Clinic Arizona, and colleagues wrote. “The emergence of targeted therapies ... has raised the question of whether more broad-based universal germline genetic testing has clinical implications in solid tumors.”
In a prospective, multisite study, researchers performed full gene sequencing analysis on 361 patients (median age 57 years; 43.5% women) with CRC to determine the prevalence of pathogenic germline variants (PGV). They further evaluated the association between PGV and clinical outcomes as well as the uptake of family variant testing.
According to universal germline genetic testing, approximately 1 in 6 patients with CRC had one or more PGVs. Of the patients with PGV, 60.7% (9.4% of patients overall) had clinically actionable findings that would not have been detected by guideline-based or CRC-specific gene panels. Logistic regression revealed younger age at CRC diagnosis (OR = 1.99; 95% CI, 1.12-3.56) correlated with PGV presence. There was no difference in overall survival between patients with PGV and patients without PGV; few family members of patients with PGV underwent family variant testing (16%).
“The power of genetics is that we can foresee the cancer that will develop in other family members, this can allow us to target cancer screening to those high-risk individuals and hopefully prevent cancer altogether in the next generation of the family,” Niloy Jewel Samadder, MD, senior study author, Mayo Clinic, said in a press release. “Steps are being taken to ensure all patients are offered genomic sequencing to better understand the genes that led to the development of their cancer and how to precisely target treatment and improve survival.”
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