Tu1386 Systematic Genomic Characterization of Normal Mucosa, Adenomatous Polyps, and Cancer in Patients With Familial Adenomatous Polyposis

2015 ◽  
Vol 148 (4) ◽  
pp. S-876
Author(s):  
Fumitaka Taniguchi ◽  
Takeshi Nagasaka ◽  
Yuko Takehara ◽  
Yuzo Umeda ◽  
Yoshiko Mori ◽  
...  
2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Jayson Wang ◽  
Nabil El-Masry ◽  
Ian Talbot ◽  
Ian Tomlinson ◽  
Malcolm R. Alison ◽  
...  

Introduction. Familial adenomatous polyposis (FAP) patients have a germline mutation in the adenomatous polyposis coli (APC) gene. The APC protein interacts with beta-catenin, resulting in the activation of the Wnt signalling pathway. This results in alterations in cell proliferation and apoptosis. We investigated the expression of beta-catenin and related proliferation and apoptotic factors in FAP patients, exploring the expression along the adenoma-carcinoma sequence.Methods. The expression of beta-catenin, p53, bcl-2, cyclin-D1, caspase-3, CD10, and Ki-67 proteins was studied by immunohistochemistry in samples of colonic nonneoplastic mucosa (n=71), adenomas (n=152), and adenocarcinomas (n=19) from each of the16 FAP patients.Results. The expression of beta-catenin, caspase-3, cyclin-D1, and Ki-67 was increased in both adenomas and carcinomas in FAP patients, compared with normal mucosa. p53 and CD10 expression was only slightly increased in adenomas, but more frequently expressed in carcinomas. Bcl-2 expression was increased in adenomas, but decreased in carcinomas.Conclusion. This is the first study investigating collectively the expression of these molecules together in nonneoplastic mucosa, adenomas, and carcinomas from FAP patients. We find that beta-catenin and related proliferative and apoptotic factors (cyclin-D1, bcl-2, caspase-3, and Ki-67) are expressed early in the sequence, in adenomas. However, p53 and CD10 are often expressed later in the sequence, in carcinomas.


1989 ◽  
Vol 34 (2) ◽  
pp. 167-170 ◽  
Author(s):  
James R. Alexander ◽  
John M. Andrews ◽  
Kenneth N. Buchi ◽  
Randall G. Lee ◽  
James M. Becker ◽  
...  

F1000Research ◽  
2015 ◽  
Vol 4 ◽  
pp. 170 ◽  
Author(s):  
Ted Kalbfleisch ◽  
Pamela Brock ◽  
Angela Snow ◽  
Deborah Neklason ◽  
Gordon Gowans ◽  
...  

Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene.  Those deletions were measured using multiplex ligation-dependent probe amplification.  Here, we present and characterize an ~11kb deletion identified by whole genome shotgun sequencing.  The deletion occurred in a patient diagnosed with Familial Adenomatous Polyposis, and was located on chr5, between bases 112,034,824 and 112,045,845, fully encompassing the 1B promoter region of the APC gene.   Results are presented here that include the sequence evidence supporting the presence of the deletion as well as base level characterization of the deletion site.  These results demonstrate the capacity of whole genome sequencing for the detection of large structural variants in single individuals.


2008 ◽  
Vol 58 (11) ◽  
pp. 706-712 ◽  
Author(s):  
Kazuya Shinmura ◽  
Masaya Suzuki ◽  
Hidetaka Yamada ◽  
Hong Tao ◽  
Masanori Goto ◽  
...  

Cell ◽  
1991 ◽  
Vol 66 (3) ◽  
pp. 589-600 ◽  
Author(s):  
Joanna Groden ◽  
Andrew Thliveris ◽  
Wade Samowitz ◽  
Mary Carlson ◽  
Lawrence Gelbert ◽  
...  

Oncotarget ◽  
2019 ◽  
Vol 10 (39) ◽  
pp. 3939-3951
Author(s):  
Richard Glenn C. Delacruz ◽  
Imelda T. Sandoval ◽  
Kyle Chang ◽  
Braden N. Miller ◽  
Laura Reyes-Uribe ◽  
...  

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