Division of Human Genetics, Biospecimen Research, Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2012 Kenny Road, Room 257, Columbus, OH 43221, USA.
Division of Colorectal Surgery, Division of Colon & Rectal Surgery, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA. Electronic address: https://twitter.com/MattKaladyMD.
Hematol Oncol Clin North Am. 2022 Jun;36(3):429-447. doi: 10.1016/j.hoc.2022.02.002. Epub 2022 May 13.
Around 10% to 16% of colorectal cancer patients have a pathogenic variant in a cancer susceptibility gene. Some of these variants are in cancer genes that are associated with colorectal cancer while others are not. The hereditary colorectal cancer syndromes can be divided into two major categories, the nonpolyposis and the polyposis conditions. The nonpolyposis conditions can be divided into those that lead to colorectal tumors with defective mismatch repair and those that do not. The polyposis conditions are further divided by predominant histology into the adenomatous, hamartomatous, serrated, and mixed polyposis conditions. All of these conditions are described in detail herein.
约 10%至 16%的结直肠癌患者存在癌症易感性基因的致病性变异。这些变异中的一些位于与结直肠癌相关的癌基因中,而另一些则不然。遗传性结直肠癌综合征可分为两大类,即非息肉病和息肉病。非息肉病可分为导致错配修复缺陷的结直肠肿瘤和不导致错配修复缺陷的结直肠肿瘤。息肉病进一步根据主要组织学分为腺瘤性、错构瘤性、锯齿状和混合息肉病。所有这些情况都在此详细描述。