下消化道癌症易患综合征。
Lower gastrointestinal tract cancer predisposition syndromes.
机构信息
Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
出版信息
Hematol Oncol Clin North Am. 2010 Dec;24(6):1229-52. doi: 10.1016/j.hoc.2010.08.012.
Abstract
Although inherited predisposition to colorectal cancer (CRC) has been suspected for more than 100 years, definitive proof of Mendelian syndromes had to await maturation of molecular genetic technologies. Since the l980s, the genetics of several clinically distinct entities has been revealed. Five disorders that share a hereditary predisposition to CRC are reviewed in this article.
摘要
尽管人们怀疑遗传性结直肠癌（CRC）已有 100 多年，但孟德尔综合征的明确证据仍有待分子遗传学技术的成熟。自 20 世纪 80 年代以来，几种具有明显临床特征的疾病的遗传学特征已被揭示。本文综述了具有 CRC 遗传易感性的五种疾病。
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J Natl Compr Canc Netw. 2003 Jan;1(1):137-44. doi: 10.6004/jnccn.2003.0014.
3
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