scholarly journals A Rare Case of Serrated Polyposis Syndrome with the MSH6 and SMARCA4 variants

2021 ◽  
Author(s):  
Mahesh Nepal ◽  
Sravani Lokineni ◽  
Le Yu Naing ◽  
Jay Bapaye ◽  
Erik Olson
Keyword(s):  
Colorectal Cancer ◽  
Adenomatous Polyposis Coli ◽  
Rare Case ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Genetic Pathway ◽  
Polyposis Syndrome ◽  
Serrated Lesions ◽  
Map Kinase Pathway ◽  
Kinase Pathway

Serrated polyposis syndrome (SPS) is the most common form of polyposis syndrome and has been shown to increase the risk of colorectal cancer (CRC). The genetic pathway of CRC in SPS is different from the classic adenomatous polyposis coli (APC) pathway, which accounts for 70–80% of cases of CRC. Most commonly, SPS mutations include BRAF and KRAS, with activation of the RAS-RAF-MAP kinase pathway involved in the pathogenesis of serrated lesions. We present a rare case of SPS in a 32-year-old woman with MSH6 and SMARCA4 variants, which have not previously been reported in the literature.

scholarly journals Regulation of deoxycholate induction of CXCL8 by the adenomatous polyposis coli gene in colorectal cancer

2009 ◽  
Vol 124 (10) ◽  
pp. 2270-2280 ◽  
Author(s):  
Nathaniel S. Rial ◽  
Gwendal Lazennec ◽  
Anil R. Prasad ◽  
Robert S. Krouse ◽  
Peter Lance ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Adenomatous Polyposis Coli ◽  
Adenomatous Polyposis Coli Gene ◽  
Adenomatous Polyposis ◽  
Polyposis Coli

β-Catenin and adenomatous polyposis coli (APC) mutations in adenomas from hereditary non-polyposis colorectal cancer patients

2000 ◽  
Vol 157 (2) ◽  
pp. 185-191 ◽  
Author(s):  
Yoshimitsu Akiyama ◽  
Hiromi Nagasaki ◽  
Kenji Osmar Yagi ◽  
Tadashi Nomizu ◽  
Yasuhito Yuasa
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Adenomatous Polyposis Coli ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Apc Mutations ◽  
Colorectal Cancer Patients

scholarly journals Superiority of fecal carcinoembryonic antigen as diagnosis marker for adenomatous polyposis coli and asymptomatic colorectal cancer

2021 ◽  
Vol 14 ◽  
pp. 175628482110627
Author(s):  
Linfang Li ◽  
Wenshen Gu ◽  
Xingping Wu ◽  
Yufeng Ao ◽  
Yiling Song ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Carcinoembryonic Antigen ◽  
Adenomatous Polyposis Coli ◽  
Triple Negative ◽  
Double Negative ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Intestinal Diseases ◽  
Diagnostic Potential ◽  
Serum Carcinoembryonic Antigen

Background: Non-invasive diagnostic tools of adenomatous polyposis coli (APC) and asymptomatic colorectal cancer (CRC) are urgently needed. Although fecal carcinoembryonic antigen (FCEA) has been documented in some studies, the diagnostic potential for the detection of APC and asymptomatic CRC has not been described yet. Methods: This is a retrospective study. The pre-diagnostic serum carcinoembryonic antigen (SCEA) and fecal occult blood test (FOBT) levels were retrospectively analyzed in 212 patients with intestinal diseases group (IDG) and 224 controls. The levels of FCEA across all the studied groups were measured using electronic chemiluminescence immunoassay (ECLIA), and their sensitivity and specificity were used to evaluate their diagnostic potential. The individual diagnostic accuracy of the three indices, as well as their combined diagnostic potential, was compared using the receiver operating characteristic (ROC) curve and chi-square test. Results: The FCEA had low sensitivity (50%) and high specificity (93.91%) for the diagnosis of IDG, with the area under the curve (AUC) value of 0.781. The AUC of FCEA was higher than that of SCEA for the diagnosis of APC and CRC in the APC, asymptomatic CRC, and APC + CRC-stage I patients. The AUCs of FCEA were 0.708 and 0.691 for the ‘double-negative patients’ and ‘triple-negative patients’, respectively. In addition, FCEA could diagnose 45.5% of the ‘double-negative’ patients, 43.3% of the asymptomatic patients, and 42.9% of the ‘triple-negative’ patients. The combination of FCEA and FOBT improved the diagnostic value (AUC = 0.916). Conclusion: FCEA has been demonstrated to be a favorable diagnostic marker in intestinal diseases, especially in the APC, asymptomatic CRC, and ‘double-negative’ or ‘triple-negative’ CRC patients.

Role of adenomatous polyposis coli (APC) gene mutations in the pathogenesis of colorectal cancer; current status and perspectives

Biochimie ◽  
2019 ◽  
Vol 157 ◽  
pp. 64-71 ◽  
Author(s):  
Amirsaeed Sabeti Aghabozorgi ◽  
Amirhossein Bahreyni ◽  
Atena Soleimani ◽  
Afsane Bahrami ◽  
Majid Khazaei ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Adenomatous Polyposis Coli ◽  
Gene Mutations ◽  
Apc Gene ◽  
Current Status ◽  
Adenomatous Polyposis ◽  
Polyposis Coli
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