Möslein Gabriela, Pistorius Steffen, Saeger Hans-Detlev, Schackert Hans K
Klinik für Allgemeine und Unfallchirurgie, Moorenstrasse 5, 40225 Düsseldorf, Germany.
Langenbecks Arch Surg. 2003 Mar;388(1):9-16. doi: 10.1007/s00423-003-0364-8. Epub 2003 Mar 27.
A better understanding of the molecular basis of hereditary colorectal cancer syndromes such as hereditary nonpolyposis colorectal cancer syndrome (HNPCC) and familial adenomatous polyposis (FAP) has profound consequences for both the diagnosis and (prophylactic) treatment of (pre)malignant neoplastic lesions.
Sequence analysis of the underlying genes for these conditions and the detection of disease-causing genetic alterations in an index patient enable predictive testing for individuals at risk within an affected family. However, the clinical implications of predictive molecular testing depend on the overall penetrance and variability in the expression of pathogenic mutations. The extent of these parameters differs considerably among the various known hereditary colorectal cancer syndromes. Hence the integration of genetic information into the daily surgical practice remains challenging.
This review provides an update on the indications for family assessment, purpose and limitations of the genetic testing and resulting recommendations for prophylactic surgery in FAP and HNPCC.
更好地理解遗传性结直肠癌综合征的分子基础，如遗传性非息肉病性结直肠癌综合征（HNPCC）和家族性腺瘤性息肉病（FAP），对（癌前）恶性肿瘤病变的诊断和（预防性）治疗都具有深远影响。
对这些疾病相关基因进行序列分析，并在索引患者中检测致病基因改变，有助于对受影响家族中的高危个体进行预测性检测。然而，预测性分子检测的临床意义取决于致病突变表达的总体外显率和变异性。这些参数在各种已知的遗传性结直肠癌综合征中差异很大。因此，将遗传信息整合到日常外科实践中仍然具有挑战性。
本综述提供了关于FAP和HNPCC家族评估的指征、基因检测的目的和局限性以及预防性手术建议的最新信息。
