Al-Sukhni Wigdan, Aronson Melyssa, Gallinger Steven
Division of General Surgery, Department of Surgery, University of Toronto, 1225-600 University Avenue, Toronto, Ontario, Canada M5G 1X5.
Surg Clin North Am. 2008 Aug;88(4):819-44, vii. doi: 10.1016/j.suc.2008.04.012.
Familial colorectal cancer (CRC) accounts for 10% to 20% of all cases of CRC. Two major autosomal dominant forms of heritable CRC are familial adenomatous polyposis (FAP) and Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer). Along with the risk for CRC, both syndromes are associated with elevated risk for other tumors. Improved understanding of the genetic basis of these diseases has not only facilitated the identification and screening of at-risk individuals and the development of prophylactic or early-stage intervention strategies but also provided better insight into sporadic CRC. This article reviews the clinical and genetic characteristics of FAP and Lynch syndrome, recommended screening and surveillance practices, and appropriate surgical and nonsurgical interventions.
家族性结直肠癌(CRC)占所有CRC病例的10%至20%。遗传性CRC的两种主要常染色体显性形式是家族性腺瘤性息肉病(FAP)和林奇综合征(也称为遗传性非息肉病性结直肠癌)。除了患CRC的风险外,这两种综合征还与其他肿瘤的风险升高有关。对这些疾病遗传基础的深入了解不仅有助于识别和筛查高危个体以及制定预防或早期干预策略,还能更好地洞察散发性CRC。本文综述了FAP和林奇综合征的临床和遗传特征、推荐的筛查和监测方法,以及适当的手术和非手术干预措施。