Hampel H, Peltomaki P
Clinical Cancer Genetics Program, Arthur G James Cancer Hospital and Richard J Solove Research Institute, Ohio State University, Columbus 43210-1240, USA.
Clin Genet. 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x.
There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of the APC gene, familial adenomatous polyposis, attenuated familial adenomatous polyposis, Peutz Jeghers syndrome, juvenile polyposis, and the PTEN hamartoma tumor syndrome. As a result, the differential diagnosis of hereditary colorectal cancer can be complex. In addition, there has been a dramatic increase in the knowledge available regarding risk assessment and management of hereditary colorectal cancer syndromes. The literature was reviewed to develop this concise review of the hereditary colorectal cancer syndromes to facilitate the accurate diagnosis of each syndrome and the appropriate medical care for individuals with these diagnoses. Referral to a qualified Clinical Cancer Genetics program is appropriate if any of these syndromes is suspected and they will ensure the most up-to-date information is available to the patient, their family, and their health care professionals.
至少有九种主要的癌症易感性综合征会增加患结直肠癌和/或结肠息肉病的风险；遗传性非息肉病性结直肠癌综合征、穆尔-托雷综合征、图尔科特综合征、APC基因的I1307K多态性、家族性腺瘤性息肉病、轻度家族性腺瘤性息肉病、黑斑息肉综合征、幼年性息肉病和PTEN错构瘤肿瘤综合征。因此，遗传性结直肠癌的鉴别诊断可能很复杂。此外，关于遗传性结直肠癌综合征的风险评估和管理的现有知识有了显著增加。回顾文献以编写这份关于遗传性结直肠癌综合征的简明综述，以促进对每种综合征的准确诊断以及为患有这些诊断的个体提供适当的医疗护理。如果怀疑患有这些综合征中的任何一种，转诊至合格的临床癌症遗传学项目是合适的，它们将确保患者、其家人及其医疗保健专业人员能够获得最新信息。
