Article
Multidisciplinary Sciences
Daisuke Yamazaki, Osamu Hashizume, Shiho Taniguchi, Yosuke Funato, Hiroaki Miki
Summary: The study on APC gene using a three-dimensional organoid culture of mouse colon epithelia revealed its role in cell proliferation and differentiation regulation, as well as identified novel characteristics related to tumor development and ectopic differentiation. The findings highlight the importance of investigating molecular mechanisms and biological significance of ectopic differentiation in cancer development using colon organoids.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Junxiu Nong, Kexin Kang, Qiaoni Shi, Xuechen Zhu, Qinghua Tao, Ye-Guang Chen
Summary: The liquid-liquid phase separation of Axin drives the formation of the destruction complex, facilitating the recruitment of other members and promoting phosphorylation of beta-catenin, critical for regulating Wnt/beta-catenin signaling.
JOURNAL OF CELL BIOLOGY
(2021)
Article
Genetics & Heredity
Martin R. Graf, Shruti Apte, Esteban Terzo, Simran Padhye, Shuhao Shi, Megan K. Cox, Roger B. Clark, Vijay Modur, Vasudeo Badarinarayana
Summary: Familial adenomatous polyposis (FAP) is a colorectal disease caused by mutations in the APC gene, leading to the growth of adenomatous polyps. The novel macrolide, ZKN-0013, has been shown to restore the function of the APC protein and inhibit the beta-catenin/wnt-pathway in human colon carcinoma cells and a mouse model of FAP. Treatment with ZKN-0013 reduced the number of intestinal polyps, adenomas, anemia, and improved survival.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2023)
Article
Gastroenterology & Hepatology
John Gasdal Karstensen, Steffen Bulow, Helle Hojen, Anne Marie Jelsig, Niels Jespersen, Klaus Kaae Andersen, Mads Damsgaard Wewer, Johan Burisch, Hans Christian Pommergaard
Summary: This study found that patients with familial adenomatous polyposis (FAP) have a significantly higher risk of developing cancer compared to controls, mainly due to increased risks of colorectal, pancreatic, and duodenal/small-bowel cancers. Additionally, the risk of developing a second primary cancer is also significantly higher for FAP patients.
Article
Medicine, General & Internal
Maria Lourdes Garza-Rodriguez, Victor Trevino, Antonio Ali Perez-Maya, Hazyadee Frecia Rodriguez-Gutierrez, Moises Gonzalez-Escamilla, Miguel Angel Elizondo-Riojas, Genaro A. Ramirez-Correa, Oscar Vidal-Gutierrez, Carlos Horacio Burciaga-Flores, Diana Cristina Perez-Ibave
Summary: In this study, a novel pathogenic germline variant in the APC gene was identified using NGS. The variant was confirmed in multiple family members and associated with atypical clinical symptoms. This variant is classified as a PVS1 variant according to ACMG guidelines, providing evidence for early surveillance and suitable treatment in patients with the variant.
Article
Surgery
Jin Hee Noh, Eun Mi Song, Ji Yong Ahn, Dong-Hoon Yang, Woochang Lee, Jinyoung Hong, Aram Kim, Hee Kyong Na, Jeong Hoon Lee, Kee Wook Jung, Do Hoon Kim, Kee Don Choi, Ho June Song, Gin Hyug Lee, Hwoon-Yong Jung
Summary: Upper GI neoplasms are not rare in patients with familial adenomatous polyposis (FAP), with more than half of the patients having gastric adenoma, gastric cancer, nonampullary duodenal adenoma, or ampullary adenoma. Endoscopic treatment has shown positive outcomes in treating these neoplasms, reducing the severity of duodenal polyposis and improving long-term prognosis.
SURGICAL ENDOSCOPY AND OTHER INTERVENTIONAL TECHNIQUES
(2022)
Review
Cell Biology
James Abbott, Inke S. Nathke
Summary: Mutations in the APC gene have been found to be driver mutations in colorectal cancers, and the importance of APC in normal tissue homeostasis has been confirmed in various organisms. APC has multiple functions, including acting as a scaffold protein in signaling pathways and regulating the cytoskeleton. Mutations in APC are strongly associated with colorectal cancers, particularly those resulting in truncated proteins. Understanding the diverse functions and interactions of APC requires knowledge of its structure and conservation across taxonomy.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2023)
Article
Immunology
Celine Cuche, Marta Mastrogiovanni, Marie Juzans, Helene Laude, Marie-Noelle Ungeheuer, Daniel Krentzel, Maria Isabella Gariboldi, Daniel Scott-Algara, Marianne Madec, Sophie Goyard, Camille Floch, Gaelle Chauveau-Le Friec, Pierre Lafaye, Charlotte Renaudat, Muriel Le Bidan, Christine Micallef, Sandrine Schmutz, Sebastien Mella, Sophie Novault, Milena Hasan, Darragh Duffy, Vincenzo Di Bartolo, Andres Alcover
Summary: Familial adenomatous polyposis (FAP) is an inherited disease characterized by the development of colorectal adenomas with high risk of becoming colorectal tumors. Mutations of the Adenomatous polyposis coli (APC) gene are often responsible for FAP. Our recent study suggests that the APC protein is involved in multiple phases of T cell responses. We investigated immune cell abnormalities in FAP subjects and found dysfunctions in various immune cell populations, gene expressions, cytokine and chemokine productions, and T cell migration.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Oncology
Yoshiko Mori, Hideyuki Ishida, Noriyasu Chika, Tetsuya Ito, Kunihiko Amano, Kenichi Chikatani, Yoji Takeuchi, Mitsuhiro Kono, Satoki Shichijo, Akiko Chino, Toshiya Nagasaki, Akinari Takao, Misato Takao, Sakiko Nakamori, Kazuhito Sasaki, Kiwamu Akagi, Tatsuro Yamaguchi, Kohji Tanakaya, Tomita Naohiro, Yoichi Ajioka
Summary: Genotype-oriented management may be beneficial for the clinical management of patients with familial adenomatous polyposis (FAP). This strategy needs to be validated in further prospective studies focusing on long-term endoscopic intervention and optimal age at prophylactic (procto)colectomy.
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Gastroenterology & Hepatology
Hyo Seon Ryu, Chang Sik Yu, Young Il Kim, Jong Lyul Lee, Chan Wook Kim, Yong Sik Yoon, In Ja Park, Seok-Byung Lim, Jin Cheon Kim
Summary: Pouch adenomas occur at a fairly high rate in FAP patients after restorative proctocolectomy, and a high colorectal polyp count is associated with pouch adenoma development.
WORLD JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Juyi Li, Chengzhi He, Jing Gong, Xiufang Wang, Chao Liu, Aiping Deng, Lin Zhu
Summary: This study identified pathogenic gene mutations in two FAP families using whole-exome sequencing and verified them with Sanger sequencing or qPCR. The mutations led to APC gene abnormalities and expanded the known germline mutation spectrum of the APC gene among the Chinese population, emphasizing the importance of genetic testing in FAP.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Article
Multidisciplinary Sciences
Lautaro Baro, Asifa Islam, Hannah M. Brown, Zoe A. Bell, M. Angeles Juanes
Summary: Cell remodeling relies on dynamic rearrangements of cell contacts powered by the actin cytoskeleton. The tumor suppressor APC nucleate actin filaments and localize at cell junctions. The role of APC-driven actin nucleation in cell junction remodeling remains unknown.
Article
Cell Biology
Shumei Chia, Thomas Leung, Ivan Tan
Summary: LRAP35a plays a crucial role in cell migration by coordinating lamellar contractility and microtubule polarization for efficient directional movement. Its regulation of actomyosin and microtubule networks is tightly controlled by a series of phosphorylation events, influencing the interaction and dissociation of key proteins involved in cellular movement.
Review
Oncology
Lila Zhu, Xinyu Li, Ying Yuan, Caixia Dong, Mengyuan Yang
Summary: The APC gene, known as a tumor suppressor gene, has two promoters 1A and 1B. Research on APC has mainly focused on its loss-of-function variants causing familial adenomatous polyposis. However, hypermethylation of the APC CpG sequence is also associated with carcinogenesis in various cancers, especially in gastrointestinal tumors.
FRONTIERS IN ONCOLOGY
(2021)
Article
Veterinary Sciences
Wakana Yoneji, Kyoko Yoshizaki, Akihiro Hirata, Kensuke Yoneji, Hiroki Sakai
Summary: Hereditary gastrointestinal (GI) polyposis is a recently discovered genetic disease in Jack Russell Terriers (JRTs) in Japan. Dogs with this disease develop solitary and multiple tumors in the stomach and/or colorectum, but have a better prognosis compared to sporadic cases. Our study found that some patients had more severe conditions, including tumors in the small intestine. Rare cases also experienced systemic metastasis of GI tumors.
VETERINARY SCIENCES
(2022)