Universal genetic testing for younger patients with colorectal cancer
Menée sur 450 patients atteints d'un cancer colorectal diagnostiqué avant l'âge de 50 ans, cette étude évalue la proportion de patients présentant des mutations génétiques héréditaires prédisposant à certains cancers puis analyse le spectre et la fréquence de ces mutations
Colorectal cancer (CRC) is the third most common cancer in the United States, diagnosed at a median age of 69 years for men and 72 years for women.1 Although CRC incidence and mortality have declined overall as a result of an increased uptake of screening,2 work remains to be done since 40% of eligible individuals are not compliant with CRC screening recommendations and CRC incidence is rising among adults younger than the screening age of 50 years. Hereditary cancer syndromes are implicated in approximately 5% of all CRC cases. Although the prevalence of genetic predisposition is likely higher among individuals who develop cancers at an early age, younger patients with CRC are significantly less likely than their counterparts with young-onset breast cancer to undergo genetic evaluation. Identification of hereditary cancer syndromes is important because morbidity can be averted through frequent endoscopic surveillance beginning at an early age.
JAMA Oncology , éditorial, 2015