Blum H E
Abteilung Innere Medizin II (Gastroenterologie, Hepatologie, Endokrinologie), Medizinische Universitätsklinik Freiburg.
Praxis (Bern 1994). 1997 Sep 24;86(39):1504-9.
Colorectal cancer (CRC) is one of the most frequent cancers in Western countries. The identification of individuals at risk and the early diagnosis of CRC are of critical importance since a large proportion can be prevented or cured by surgical removal before metastasis has occurred. With increasing understanding of the genetic basis of hereditary and sporadic (non-hereditary) CRC, it becomes feasible to detect genetic alterations by molecular techniques. Familial adenomatous polyposis (FAP), hereditary nonpolyposis colorectal cancer (HNPCC) as well as early stages of spontaneous CRC can be diagnosed by molecular characterization of the adenomatous polyposis coli (APC) gene, the ras oncogene and other genes, respectively, in DNA from peripheral blood, stool or intestinal biopsies. At present, careful patient and family history, physical examination, testing for occult blood as well as colonoscopy are still the key elements, however, for clinical patient management. Molecular diagnosis will hopefully soon complement these analyses and should result in a reduction of morbidity and mortality from CRC. Further, gene therapy offers some potential to prevent or treat CRC.
结直肠癌（CRC）是西方国家最常见的癌症之一。识别高危个体并对结直肠癌进行早期诊断至关重要，因为很大一部分病例在转移发生前通过手术切除即可预防或治愈。随着对遗传性和散发性（非遗传性）结直肠癌遗传基础的认识不断加深，通过分子技术检测基因改变变得可行。家族性腺瘤性息肉病（FAP）、遗传性非息肉病性结直肠癌（HNPCC）以及自发性结直肠癌的早期阶段，可分别通过对外周血、粪便或肠道活检样本的DNA中腺瘤性息肉病大肠杆菌（APC）基因、ras癌基因和其他基因进行分子特征分析来诊断。目前，详细的患者和家族病史、体格检查、潜血检测以及结肠镜检查仍是临床患者管理的关键要素。然而，分子诊断有望很快补充这些分析，并应能降低结直肠癌的发病率和死亡率。此外，基因治疗为预防或治疗结直肠癌提供了一些潜力。
