Genetic Testing for Cancer Susceptibility
Menée dans deux Etats américains (Californie et Géorgie) à partir de données de registres SEER portant sur 1 369 602 patients atteints d'un cancer diagnostiqué entre 2013 et 2019, cette étude analyse l'utilisation de tests de génétique constitutionnelle après le diagnostic de la maladie et examine la prévalence de variants de susceptibilité
Approximately 10% of patients diagnosed with cancer have a germline variant in a gene that increases susceptibility to cancer. The most common examples include germline pathogenic variants (mutations) in BRCA1 and BRCA2, which are associated with an increased risk of breast, ovarian, pancreatic, and prostate cancer, and germline pathogenic variants in MLH1, MSH2, MSH6, and PMS2 (Lynch syndrome), which are associated with increased risk of colorectal cancer, endometrial cancer, and other cancer types. More than 100 genes that increase susceptibility to cancer (with varied levels of penetrance and association with cancer susceptibility) have been described. The prevalence of these germline genetic variants varies by cancer type, ranging from 4% to 6% in patients with lung cancer, esophageal cancer, and head and neck cancer to 30% for male patients with breast cancer.
JAMA , éditorial en libre accès, 2022