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
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
Oncology
Misato Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Takeshi Yamada, Yasushi Okazaki, Naohiro Tomita, Tadashi Nomizu, Tomoyuki Momma, Tetsuji Takayama, Kohji Tanakaya, Kiwamu Akagi, Hideyuki Ishida
Summary: Familial adenomatous polyposis (FAP) is a rare genetic disorder caused by a pathogenic variant of the APC gene, but this variant is not detected in up to 30% of patients with the adenomatous polyposis phenotype. Next-generation sequencing (NGS) was used to identify causative genes in FAP patients with 10 or more polyps, and APC mosaicism was detected in nine patients. The study found that APC germline variants were associated with specific phenotypes and increasing numbers of extracolonic lesions.
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY
(2021)
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
Medical Laboratory Technology
Faranak Ghadamyari, Mohammad Mehdi Heidari, Sirous Zeinali, Mehri Khatami, Shahin Merat, Hamideh Bagherian, Leili Rejali, Farzaneh Ghasemi
Summary: This study conducted genetic screening of 59 FAP Iranian patients in 10 families to investigate APC gene mutations in FAP tumorigenesis. A total of 12 germline heterozygous and homozygous nucleotide variations were identified, including two missense mutations, four nonsense mutations, four synonymous variations, and two nucleotide deletions. The findings suggest potential biomarkers and provide insights into the role of the APC gene in FAP.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Review
Biochemistry & Molecular Biology
Ilaria Ditonno, Domenico Novielli, Francesca Celiberto, Salvatore Rizzi, Maria Rendina, Enzo Ierardi, Alfredo Di Leo, Giuseppe Losurdo
Summary: Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by the presence of multiple polyps in the gastrointestinal tract and various systemic extra-intestinal manifestations. The pathogenesis of FAP is associated with a loss of function mutation in the adenomatous polyposis coli (APC) gene and involves multiple mechanisms such as gut microbiota composition, immune microenvironment, inflammation, estrogen, and signaling pathways. Understanding these pathways can help develop targeted therapies and chemopreventive strategies to improve the quality of life for individuals and families affected by FAP.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Rachel Schwiter, Heather Rocha, Alicia Johns, Juliann M. Savatt, David L. Diehl, Melissa A. Kelly, Marc S. Williams, Adam H. Buchanan
Summary: This study describes the clinical presentation of individuals with APC P/LP variants causative of familial adenomatous polyposis in an unselected health care system cohort. The prevalence of APC P/LP variants in this cohort is estimated to be higher than previously published rates. Individuals identified via genomic screening had a low adenoma burden compared to controls.
GENETICS IN MEDICINE
(2023)
Review
Cell Biology
Chenchen Li, Emma E. Furth, Anil K. Rustgi, Peter S. Klein
Summary: The Wnt signaling pathway is crucial in metazoan development and stem cell maintenance, and is also involved in various malignancies. Apart from the canonical activation, the pathway can affect cell function through multiple alternative effectors, potentially contributing to cancer development.
Article
Genetics & Heredity
Worrawit Wanitsuwan, Sukanya Vijasika, Pichai Jirarattanasopa, Sukanya Horpaopan
Summary: A novel pathogenic variant in the APC gene was identified in Southern Thai FAP patients, leading to skipping of exon 10. Segregation study confirmed its inheritance pattern in affected family members across three generations. The phenotypic spectrum varied within the family, with some members exhibiting extracolonic manifestations.
BMC MEDICAL GENOMICS
(2021)
Article
Genetics & Heredity
Vittoria Disciglio, Giovanna Forte, Candida Fasano, Paola Sanese, Martina Lepore Signorile, Katia De Marco, Valentina Grossi, Filomena Cariola, Cristiano Simone
Summary: Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor suppressor gene APC, most of which result in truncated protein products. A study found 119 unique APC splicing mutations reported in FAP patients, with some leading to exon skipping associated with the attenuated FAP (AFAP) phenotype.
Article
Pathology
Tomoaki Naka, Taiki Hashimoto, Hourin Cho, Noriko Tanabe, Teruhiko Yoshida, Yasushi Yatabe, Takaki Yoshikawa, Seiichiro Abe, Shigeki Sekine
Summary: Gastric foveolar-type adenoma (FA) is a rare benign neoplasm that can either occur sporadically or in patients with familial adenomatous polyposis (FAP). This study aimed to investigate the molecular features of FA and the relationship between sporadic and syndromic lesions. The results showed that sporadic FA includes at least two morphologically and genetically distinct subtypes: flat and raspberry-like FA. Additionally, it was found that flat FA represents a sporadic counterpart of FAP-associated FA.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2023)
Article
Pathology
Yi Zhang, Binyong Liang, Xinhua Song, Haichuan Wang, Matthias Evert, Yi Zhou, Diego F. Calvisi, Liling Tang, Xin Chen
Summary: Loss of Apc alone does not drive liver tumor formation, but synergizes with activated oncogenes (YapS127A, TazS89A, and c-Met) to induce hepatocarcinogenesis. A subset of HCC patients with loss-of-function APC mutations might benefit from therapeutic strategies targeting the Wnt/B-catenin pathway.
AMERICAN JOURNAL OF PATHOLOGY
(2021)
Article
Oncology
Miaorong Xu, Yuyan Zheng, Zhongchao Zuo, Qin Zhou, Qun Deng, Jianwei Wang, Da Wang
Summary: This case report presents a 20-year-old female with familial adenomatous polyposis (FAP) who initially presented with thyroid cancer and later developed colon cancer liver metastases. Genetic testing revealed a novel mutation in the APC gene. The mutation may contribute to the pathogenesis of the disease through beta-catenin accumulation, cell cycle microtubule dysregulation, and tumor suppressor inactivation.
WORLD JOURNAL OF SURGICAL ONCOLOGY
(2023)
Review
Chemistry, Medicinal
Manjinder Singh Phull, Surender Singh Jadav, Rambabu Gundla, Prathama S. Mainkar
Summary: Colorectal cancer is a major cause of carcinogenic mortality, with mutations in the APC gene playing a key role. Current research is focused on developing new anti-colorectal cancer drugs by targeting essential cellular components.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY
(2021)
Correction
Biochemistry & Molecular Biology
Joongho Shin, Azadeh Carr, Georgia A. Corner, Lars Toegel, Mercedes Davalos-Salas, Hoanh Tran, Anderly C. Chueh, Sheren Al-Obaidi, Fiona Chionh, Naseem Ahmed, Daniel D. Buchanan, Joanne P. Young, Madhu S. Malo, Richard A. Hodin, Diego Arango, Oliver M. Sieber, Leonard H. Augenlicht, Amardeep S. Dhillon, Thomas K. Weber, John M. Mariadason
JOURNAL OF BIOLOGICAL CHEMISTRY
(2015)
Article
Oncology
Lars Togel, Rebecca Nightingale, Anderly C. Chueh, Aparna Jayachandran, Hoanh Tran, Toby Phesse, Rui Wu, Oliver M. Sieber, Diego Arango, Amardeep S. Dhillon, Mark A. Dawson, Beatriz Diez-Dacal, Timothy C. Gahman, Panagis Filippakopoulos, Andrew K. Shiau, John M. Mariadason
MOLECULAR CANCER THERAPEUTICS
(2016)
Article
Oncology
Yvonne Yeung, David K. Lau, Fiona Chionh, Hoanh Tran, Janson W. T. Tse, Andrew J. Weickhardt, Mehrdad Nikfarjam, Andrew M. Scott, Niall C. Tebbutt, John M. Mariadason
MOLECULAR ONCOLOGY
(2017)
Article
Cell Biology
Hoanh Tran, Fumihiko Hamada, Thomas Schwarz-Romond, Mariann Bienz
GENES & DEVELOPMENT
(2008)
Article
Biochemistry & Molecular Biology
Hoanh Tran, Daisy Bustos, Ronald Yeh, Bonnee Rubinfeld, Cynthia Lam, Stephanie Shriver, Inna Zilberleyb, Michelle W. Lee, Lilian Phu, Anjali A. Sarkar, Irene E. Zohn, Ingrid E. Wertz, Donald S. Kirkpatrick, Paul Polakis
JOURNAL OF BIOLOGICAL CHEMISTRY
(2013)
Article
Cell Biology
Maria Ekman, Yabing Mu, So Young Lee, Sofia Edlund, Takaharu Kozakai, Noopur Thakur, Hoanh Tran, Jiang Qian, Joanna Groeden, Carl-Henrik Heldin, Marene Landstrom
MOLECULAR BIOLOGY OF THE CELL
(2012)
Article
Multidisciplinary Sciences
Marinella G. Callow, Hoanh Tran, Lilian Phu, Ted Lau, James Lee, Wendy N. Sandoval, Peter S. Liu, Sheila Bheddah, Janet Tao, Jennie R. Lill, Jo-Anne Hongo, David Davis, Donald S. Kirkpatrick, Paul Polakis, Mike Costa
Article
Multidisciplinary Sciences
Jeannine Diesch, Elaine Sanij, Omer Gilan, Christopher Love, Hoanh Tran, Nicholas I. Fleming, Jason Ellul, Marcia Amalia, Izhak Haviv, Richard B. Pearson, Eugene Tulchinsky, John M. Mariadason, Oliver M. Sieber, Ross D. Hannan, Amardeep S. Dhillon
Article
Biochemistry & Molecular Biology
Li Dong, Boris Reljic, Jen G. Cheung, Elizabeth S. Ng, Lisa M. Lindqvist, Andrew G. Elefanty, David L. Vaux, Hoanh Tran
CELL DEATH AND DIFFERENTIATION
(2019)
Article
Oncology
Bang Manh Tran, Dustin James Flanagan, Gregor Ebert, Nadia Warner, Hoanh Tran, Theodora Fifis, Georgios Kastrappis, Christopher Christophi, Marc Pellegrini, Joseph Torresi, Toby James Phesse, Elizabeth Vincan
Article
Biochemistry & Molecular Biology
H Tran, M Schilling, C Wirbelauer, D Hess, Y Nagamine
Article
Biochemistry & Molecular Biology
H Tran, F Maurer, Y Nagamine
MOLECULAR AND CELLULAR BIOLOGY
(2003)