DOMINANT INHERITANCE OF ADENOMATOUS COLONIC POLYPS AND COLORECTAL-CANCER
DOMINANT INHERITANCE OF ADENOMATOUS COLONIC POLYPS AND COLORECTAL-CANCER
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DOI：
10.1056/nejm198506133122403
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发表时间：
1985-01-01
影响因子：
158.5
通讯作者：
SKOLNICK, MH
中科院分区：
文献类型：
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作者：
BURT, RW;BISHOP, DT;SKOLNICK, MH
除了罕见的息肉综合征，遗传因素在结直肠癌和腺瘤性息肉的发生中的作用还不是很清楚。在犹他州[美国]一个有多个常见结直肠癌病例但没有可识别的遗传模式的大家系中，研究了结肠息肉和癌症的遗传易感性。然而，通过使用柔性直肠乙状结肠镜对家系成员和配偶对照的结肠息肉进行系统筛查，明确了遗传。在21%的家族成员中发现一个或多个腺瘤性息肉(41/191)，而在对照组中只有9%(12/132)(P<；0.005)。用似然方法进行家系分析，比较随机发生的癌症和息肉与常染色体隐性遗传和常染色体显性遗传模式。观察到的离散性腺瘤息肉和结直肠癌的过量显然是遗传的常染色体显性易感基因的结果，而不是遗传的隐性易感基因或偶然发生的结果。这种类型的大肠息肉和癌症的遗传可能比以前认识到的更常见。
Except in the rare polyposis syndromes, the contribution of heritable factors to the genesis of colorectal cancer and adenomatous polyps is not well understood. The inheritance of susceptibility to colonic polyps and cancer was examined in a large Utah [USA] pedigree with multiple cases of common colorectal cancer but no recognizable inheritance pattern among them. Inheritance was clarified, however, by systematic screening for colonic polyps in pedigree members and spouse controls, using flexible proctosigmoidoscopy. One or more adenomatous polyps were found in 21% of family members (41 of 191) but in only 9% of controls (12 of 132) (P < 0.005). Pedigree analysis was performed with likelihood methods that compared random occurrence of cancer and polyps with autosomal recessive and autosomal dominant patterns of inheritance. The observed excess of discrete adenomatus polyps and colorectal cancers was apparently the result of an inherited autosomal dominant gene for susceptibility, rather than an inherited recessive gene for susceptibility or a chance occurrence. This type of inheritance of colorectal polyps and cancer may be more common than previously recognized.