遗传性结直肠癌：遗传学与筛查
Hereditary Colorectal Cancer: Genetics and Screening.
作者信息
Brosens Lodewijk A A, Offerhaus G Johan A, Giardiello Francis M
机构信息
Department of Pathology, University Medical Center Utrecht (H04-312), Heidelberglaan 100, Utrecht 3584 CX, The Netherlands; Department of Pathology, The Johns Hopkins University School of Medicine, CRB 2, Room 345, 1550 Orleans Street, Baltimore, MD 21231, USA.
Department of Pathology, University Medical Center Utrecht (H04-312), Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.
出版信息
Surg Clin North Am. 2015 Oct;95(5):1067-80. doi: 10.1016/j.suc.2015.05.004. Epub 2015 Jun 16.
Abstract
Colorectal cancer (CRC) is the third most common cancer and the third leading cause of cancer death in men and women in the United States. About 30% of patients with CRC report a family history of CRC. However, only 5% of CRCs arise in the setting of a well-established mendelian inherited disorder. In addition, serrated polyposis is a clinically defined syndrome with multiple serrated polyps in the colorectum and an increased CRC risk for which the genetics are unknown. This article focuses on genetic and clinical aspects of Lynch syndrome, familial adenomatous polyposis, and MUTYH-associated polyposis.
摘要
结直肠癌（CRC）是美国男性和女性中第三常见的癌症，也是癌症死亡的第三大主要原因。约30%的CRC患者报告有CRC家族史。然而，只有5%的CRC发生在已明确的孟德尔遗传疾病背景下。此外，锯齿状息肉病是一种临床定义的综合征，其在结肠直肠中有多个锯齿状息肉，且患CRC风险增加，但其遗传学尚不清楚。本文重点关注林奇综合征、家族性腺瘤性息肉病和MUTYH相关息肉病的遗传和临床方面。
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本文引用的文献
1
Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect?
Gastrointest Endosc. 2014 Dec;80(6):1145-55. doi: 10.1016/j.gie.2014.07.049.
2
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer.
Gastroenterology. 2014 Aug;147(2):502-26. doi: 10.1053/j.gastro.2014.04.001.
3
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
J Med Genet. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15.
4
Colorectal cancer statistics, 2014.
CA Cancer J Clin. 2014 Mar-Apr;64(2):104-17. doi: 10.3322/caac.21220. Epub 2014 Mar 17.
5
Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers.
Ann Surg Oncol. 2013 Jun;20(6):1829-36. doi: 10.1245/s10434-012-2858-5. Epub 2013 Jan 29.
6
Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy.
Dis Colon Rectum. 2012 Jun;55(6):653-9. doi: 10.1097/DCR.0b013e31824f5392.
7
Risk of colonic neoplasia after proctectomy for rectal cancer in hereditary nonpolyposis colorectal cancer.
Ann Surg. 2012 Jun;255(6):1121-5. doi: 10.1097/SLA.0b013e3182565c0b.
8
Chemoprevention in familial adenomatous polyposis.
Best Pract Res Clin Gastroenterol. 2011 Aug;25(4-5):607-22. doi: 10.1016/j.bpg.2011.08.002.
9
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743.
10
A new phenotypic manifestation of familial adenomatous polyposis.
Fam Cancer. 2011 Jun;10(2):309-13. doi: 10.1007/s10689-011-9432-3.
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