Dandapani Monica, Stoffel Elena M
Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA.
Semin Colon Rectal Surg. 2011 Jun 1;22(2):100-104. doi: 10.1053/j.scrs.2010.12.008.
Hereditary colorectal cancer syndromes can be associated with a lifetime risk of CRC of >70% in the absence of specialized surveillance. Diagnosing a genetic predisposition to cancer allows clinicians to tailor cancer prevention strategies for patients and families at highest risk. Once a genetic syndrome has been identified in a family, communication with family members, timely implementation of screening tests and/or surgeries, and psychosocial support are all instrumental for effective cancer prevention.Molecular screening of tumors, computerized risk assessment models, and genetic testing can help clinicians identify individuals at risk for hereditary cancer syndromes. This review discusses some of the complexities involved in the diagnosis and management of families with hereditary CRC syndromes and provides strategies for coordinating clinical care.
遗传性结直肠癌综合征在缺乏专门监测的情况下，一生患结直肠癌的风险可能超过70%。诊断出癌症的遗传易感性使临床医生能够为风险最高的患者和家庭量身定制癌症预防策略。一旦在一个家族中确定了遗传综合征，与家族成员沟通、及时进行筛查测试和/或手术以及心理社会支持对于有效的癌症预防都至关重要。肿瘤的分子筛查、计算机化风险评估模型和基因检测可以帮助临床医生识别有遗传性癌症综合征风险的个体。本综述讨论了遗传性结直肠癌综合征家族诊断和管理中涉及的一些复杂性，并提供了协调临床护理的策略。
