MYH相关性息肉病的研究进展

From a genetic perspective, colorectal cancer can be divided into two types: hereditary (accounting for about 25%) and non-hereditary (accounting for about 75%). Hereditary colorectal cancer includes: (1) Familial adenomatous polyposis (FAP) caused by APC gene mutations, etc., accounting for about 1% of colorectal cancer [1, 2]; (2) Hereditary non-polyposis colorectal cancer (HNPCC) caused by mismatch repair gene mutations, accounting for 5% - 10% [3, 4]; (3) There is also a part of colorectal cancer that shows a familial aggregation pattern and whose name or type cannot be determined currently, which is collectively called familial colorectal cancer; (4) Rare hereditary syndromes such as juvenile polyposis (J - P syndrome), accounting for less than 1%.

从遗传学角度,结直肠癌可以分为遗传性(约占25%)和非遗传性(约占75%)两种.遗传性结直肠癌包括:(1)由APC基因突变导致的家族性腺瘤性息肉病(FAP)等,约占结直肠癌的1%[1,2];(2)由错配修复基因突变导致的遗传性非息肉病性结直肠癌(HNPCC),占5%～10%[3,4]0;(3)还有一部分当前尚无法确定病名或类型的呈家族性聚集的结直肠癌,统称为家族性大肠癌;(4)幼年性息肉病(J-P综合征)等少见遗传性综合征,占1%以下。