Ellis C Neal
Department of Surgery, University of South Alabama, Mobile, AL 36617-2293, USA.
Clin Colon Rectal Surg. 2005 Aug;18(3):150-62. doi: 10.1055/s-2005-916276.
Colorectal cancer is one of the major causes of cancer deaths in both men and women. It is estimated that approximately 5% to 10% of patients with colorectal cancer have an inherited germline mutation that predisposes them to cancer. Clinically, hereditary colorectal cancer syndromes can be divided into those associated with colonic polyposis (familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MYH-associated polyposis) and those not associated with colonic polyposis (hereditary nonpolyposis colon cancer). Treatment options for these patients include multiple aggressive screening regimens, chemopreventive medications, and prophylactic surgery. Selection of the appropriate management approach is best made using information obtained from the patient's clinical examination, the family medical history, and genetic evaluation. Compliance is improved when patients completely understand their disease and participate fully in the formulation of the treatment plan. Although not proved, it seems reasonable that this approach may prevent the poor outcomes so frequently associated with inherited cancer syndromes.
结直肠癌是男性和女性癌症死亡的主要原因之一。据估计，约5%至10%的结直肠癌患者存在遗传性种系突变，使他们易患癌症。临床上，遗传性结直肠癌综合征可分为与结肠息肉病相关的综合征（家族性腺瘤性息肉病、轻度家族性腺瘤性息肉病和MYH相关息肉病）和与结肠息肉病无关的综合征（遗传性非息肉病性结肠癌）。这些患者的治疗选择包括多种积极的筛查方案、化学预防药物和预防性手术。使用从患者临床检查、家族病史和基因评估中获得的信息，最好能选择合适的管理方法。当患者完全了解自己的疾病并充分参与治疗计划的制定时，依从性会得到提高。虽然尚未得到证实，但这种方法可能预防与遗传性癌症综合征经常相关的不良后果，这似乎是合理的。
