作者: Holly Ni Raghallaigh , Rosalind Eeles
DOI: 10.1007/S10689-021-00227-3
关键词: Overdiagnosis 、 Genetic testing 、 Genetic predisposition 、 Cancer 、 Population 、 Familial prostate cancer 、 Prostate cancer screening 、 Medicine 、 Oncology 、 Prostate cancer 、 Internal medicine
摘要: Improvements in DNA sequencing technology and discoveries made by large scale genome-wide association studies have led to enormous insight into the role of genetic variation prostate cancer risk. High-risk risk predisposition genes exist addition common germline variants conferring low-moderate risk, which together account for over a third familial Identifying men with additional factors such as or positive family history is clinical importance, higher incidence some evidence suggest diagnosis at younger age poorer outcomes. The medical community remains disagreement on benefits population screening programme reliant PSA testing. A reduction mortality has been demonstrated many studies, but cost significant amounts overdiagnosis overtreatment. Developing targeted strategies high-risk currently subject investigation number prospective studies. At present, approximately 38% PrCa can be explained based published SNPs, top 1% profile having 5.71-fold increase developing compared controls. With 170 susceptibility loci now identified European populations, there scope explore utility testing genetic-risk scores stratification, data non-European populations eagerly awaited. This review will focus both rare involved hereditary cancer, discuss ongoing research exploring this group men.