Lindor Noralane M
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA.
Surg Oncol Clin N Am. 2009 Oct;18(4):637-45. doi: 10.1016/j.soc.2009.07.003.
Establishing the Amsterdam criteria, based on pedigrees, was essential for defining hereditary nonpolyposis colorectal cancer (HNPCC) syndrome in such a way that the underlying genetic cause could be identified. It is now known that about half of families that fulfill the original Amsterdam criteria have a hereditary DNA mismatch repair (MMR) gene mutation. These families may be said to have Lynch syndrome. The other half of families with HNPCC has no evidence of DNA MMR deficiency, and studies show that these families are different from families with Lynch syndrome. Familial colorectal cancer type X is the name used to refer to the "other half of HNPCC".
基于家系建立阿姆斯特丹标准，对于以能够识别潜在遗传病因的方式定义遗传性非息肉病性结直肠癌（HNPCC）综合征至关重要。现在已知，约一半符合原始阿姆斯特丹标准的家族存在遗传性DNA错配修复（MMR）基因突变。这些家族可被认为患有林奇综合征。另一半HNPCC家族没有DNA错配修复缺陷的证据，并且研究表明这些家族与林奇综合征家族不同。X型家族性结直肠癌是用于指代“HNPCC的另一半”的名称。
