PERSPECTIVES IN CLINICAL GASTROENTEROLOGY AND HEPATOLOGY

被引：60
|
作者：
Stoffel, Elena M. [1 ]
Kastrinos, Fay [2 ]
机构：
[1] Univ Michigan Hlth Syst, Div Gastroenterol, Ann Arbor, MI 48109 USA
[2] Columbia Univ, Med Ctr, Div Digest & Liver Dis, Herbert Irving Comprehens Canc Ctr, New York, NY USA
来源：
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY | 2014年 / 12卷 / 07期
基金：
美国国家卫生研究院;
关键词：
Lynch Syndrome; Colorectal Cancer; Genetic Testing; Genetic Counseling; COLORECTAL-CANCER RISK; HYPERPLASTIC POLYPOSIS SYNDROME; SESSILE SERRATED ADENOMAS; PEUTZ-JEGHERS-SYNDROME; FAMILIAL COLON-CANCER; LYNCH-SYNDROME; MUTATION CARRIERS; GERMLINE MUTATIONS; HEREDITARY; RECOMMENDATIONS;
D O I：
10.1016/j.cgh.2013.08.015
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
Although 30% of individuals diagnosed with colorectal cancer (CRC) report a family history of the disease, only 5% to 6% carry germline mutations in genes associated with known hereditary cancer syndromes. The evaluation and management of families affected with CRC can be complicated by variability in disease phenotypes and limited sensitivity of genetic tests. In this review, we examine what is currently known about familial CRC and what we have yet to learn, and explore how novel genomic approaches might be used to identify additional genetic and epigenetic factors implicated in heritable risk for cancer.
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页码：1059 / 1068
页数：10
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