Familial adenomatous polyposis

被引：0

作者：

Lal, G ^{[1
]}

Gallinger, S ^{[1
]}

机构：

[1] Univ Toronto, Dept Surg, Div Gen Surg, Toronto, ON, Canada

来源：

SEMINARS IN SURGICAL ONCOLOGY | 2000年 / 18卷 / 04期

关键词：

adenomatous polyposis coil; genetics/diagnosis/pathology/surgery; colorectal neoplasms; intestinal polyps; incidence; APC genes; hypertrophy/congenital pigment epithelium of eye; Gardner syndrome; epidermal cyst; osteoma; aggressive fibromatosis; brain neoplasms/genetics; linkage (genetics); mutation; mice; heterozygote detection; colectomy; restorative proctocolectomy; ileostomy; non-steroidal anti-inflammatory agents; sulindac; cyclooxygenase inhibitors; postoperative complications; genetic screening; genetic counseling; endoscopy;

D O I：

暂无

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Familial adenomatous polyposis (FAP) is a dominantly inherited familial cancer syndrome characterized by an increased predisposition to colorectal cancer and other benign and malignant extracolonic lesions. FAP has been linked to germline mutations of the adenomatous polyposis coli (APC) gene that encodes a protein with 2,843 amino acids that has important functions in the regulation of cell growth. A genotype-phenotype correlation has also been observed between mutations in the APC gene and polyp phenotype. We review the clinical and genetic features of this disorder and provide information on the diagnostic approaches and treatment options available for this disease. Semin. Surg. Oncol. 18:314-323. (C) 2000 Wiley-Liss, Inc.

引用

页码：314 / 323

页数：10

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