APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis.
APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis.
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家族性腺瘤性息肉病中的APC基因突变和结直肠腺瘤病。
DOI：
10.1054/bjoc.1999.0925
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发表时间：
2000-01
影响因子：
8.8
通讯作者：
Battista, P
中科院分区：
文献类型：
--
作者：
Ficari, F;Cama, A;Valanzano, R;Curia, MC;Palmirotta, R;Aceto, G;Esposito, DL;Crognale, S;Lombardi, A;Messerini, L;Mariani-Costantini, R;Tonelli, F;Battista, P
关键词：
通过对29例携带一个错义突变的FAP患者的结肠切除标本进行分析，研究了生殖系APC突变位点与结直肠病理表型之间的相关性，并通过结肠切除术中腺瘤的直接计数进行了评估。（密码子208）和14个移码或无义APC突变（密码子232、367、437、623、876、995、1061、1068、1075、1112、1114、1309、1324、1556）。208位密码子的错义突变与相对较轻的结直肠病理表型相关。密码子367的突变，受选择性剪接，与减毒FAP。第1309位密码子突变与大肠腺瘤病的发生有关。对于13个预测会导致无效等位基因或截短APC蛋白的突变，我们将结直肠腺瘤的密度和分布与突变的预测功能效应相关联。最严重的结直肠病理表型与密码子1309处的截短突变显著相关，该突变位于I β-catenin结合结构域的下游，但位于II β-catenin结合结构域的上游。影响I β-连环蛋白结合域的密码子867和1114之间的突变，以及预测导致无效等位基因的外显子6和9中发生的突变，与不太严重的结直肠病理表型相关。总的来说，在右结肠中检测到的腺瘤数量最多，其次是左结肠、横结肠和直肠。然而，在左结肠中观察到最高密度的腺瘤，其次是右结肠、乙状结肠、横结肠和直肠。结直肠癌，观察到只有五名患者，都在左结肠。2000癌症研究运动
Correlations between germline APC mutation sites and colorectal pathophenotypes, as evaluated by the direct count of adenomas at colectomy, were investigated analysing colectomy specimens from 29 FAP patients carrying one mis-sense (codon 208) and 14 frame-shift or non-sense APC mutations (codons 232, 367, 437, 623, 876, 995, 1061, 1068, 1075, 1112, 1114, 1309, 1324, 1556). The mis-sense mutation at codon 208 was associated with a relatively mild colorectal pathophenotype. The mutation at codon 367, subject to alternative splicing, was associated with attenuated FAP. The mutation at codon 1309 was associated with the profuse colorectal adenomatosis. For 13 mutations, predicted to result in null alleles or truncated APC proteins, we correlated density and distribution of colorectal adenomas with the predicted functional effects of the mutation. The most severe colorectal pathophenotype was significantly associated with the truncating mutation at codon 1309, which is located downstream to the I β-catenin binding domain but upstream II β-catenin-binding domain. Mutations between codons 867 and 1114, which affect the I β-catenin binding domain, as well as mutations occurring in exons 6 and 9, predicted to result in null alleles, were associated with a less severe colorectal pathophenotype. Overall, the highest number of adenomas was detected in the right colon, followed by the left colon, transverse colon sigma and rectum. However, the highest density of adenomas was observed in the left colon, followed by the right colon, sigma, transverse colon and rectum. Colorectal carcinomas, observed in only five patients, were all in the left colon. © 2000 Cancer Research Campaign
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影响因子：
64.5
作者：
GRODEN, J;THLIVERIS, A;WHITE, R
通讯作者：
WHITE, R
DOI：
10.1002/ajmg.1320310223
发表时间：
1988-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
BAKER, RH;HEINEMANN, MH;DECOSSE, JJ
通讯作者：
DECOSSE, JJ
影响因子：
168.9
作者：
CASPARI, R;FRIEDL, W;PROPPING, P
通讯作者：
PROPPING, P
DOI：
10.1073/pnas.90.23.11109
发表时间：
1993-12-01
影响因子：
11.1
作者：
JOSLYN, G;RICHARDSON, DS;ALBER, T
通讯作者：
ALBER, T
影响因子：
56.9
作者：
Matsumine, A;Ogai, A;Akiyama, T
通讯作者：
Akiyama, T