Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management

摘要: Hereditary forms of colorectal cancer, as is the case with virtually all hereditary show extensive phenotypic and genotypic heterogeneity, a phenomenon discussed throughout this special issue Familial Cancer. Clearly, family physician, oncology specialist, genetic counselor, cancer geneticist must know fully complexity syndromes, their differential diagnosis, in order to establish direct highly-targeted surveillance management, then be able communicate effectively molecular so that an at-risk patient’s DNA can tested accord syndrome concern. Thus, features Lynch will merit microsatellite instability testing, consideration for immunohistochemistry evaluation, mismatch repair gene while, contrast, patient FAP require APC testing. However, other germline mutations, yet identified, may important should testing these mutations prove absent and, therein, unrewarding patient. Nevertheless, our position if history consistent one but mutation not found family, we still recommend same management strategies patients from families established cancer-causing mutation. Our purpose paper provide concise coverage major discuss counseling, highly targeted control maximized high risk patients.