Article
Oncology
Joana Guerra, Carla Pinto, Pedro Pinto, Manuela Pinheiro, Catarina Santos, Ana Peixoto, Carla Escudeiro, Ana Barbosa, Miguel Porto, Ines Francisco, Paula Lopes, Ana Raquel Isidoro, Ana Luisa Cunha, Cristina Albuquerque, Isabel Claro, Carla Oliveira, Joao Silva, Manuel R. Teixeira
Summary: This study aimed to evaluate the contribution of CTNNA1 and CTNND1 germline variants to hereditary diffuse gastric cancer (HDGC) and compare the frequencies of CDH1 and CTNNA1 (and eventually CTNND1) germline variants between patients with diffuse and mixed gastric carcinomas. The findings revealed a high frequency of CDH1 pathogenic variants in HDGC patients, while the frequency of CTNNA1 and CTNND1 pathogenic variants was lower. No pathogenic variants were found in CDH1 and CTNNA1 in patients with mixed gastric cancer, suggesting that this tumor type may not be included in the genetic testing criteria.
Review
Oncology
Giovanni Corso, Giovanni Comelli, Paolo Veronesi, Beatrice Bianchi, Salvatore Petitto, Andrea Polizzi, Antonia Girardi, Antonio Cioffi, Carlo La Vecchia, Vincenzo Bagnardi, Francesca Magnoni
Summary: The purpose of this study was to investigate the occurrence of diffuse gastric cancer (DGC) in male and female patients with germline CDH1 variants from families with the hereditary diffuse gastric cancer (HDGC) syndrome. The study found that there were more women than men with DGC and CDH1 variants, and there was an association between young women (=40 years) and DGC and CDH1 variants. The conclusion of this study is that young women carrying CDH1 variants are relatively common in the HDGC syndrome, especially in low-incidence areas for gastric cancer, and they may be at a higher risk of developing DGC.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Article
Oncology
Elio Adib, Talal El Zarif, Amin H. Nassar, Elie W. Akl, Sarah Abou Alaiwi, Tarek H. Mouhieddine, Edward D. Esplin, Kathryn Hatchell, Sarah M. Nielsen, Huma Q. Rana, Toni K. Choueiri, David J. Kwiatkowski, Guru Sonpavde
Summary: This study mapped the landscape of P/LP germline variants in the CDH1 gene across various cancers and ethnicities. The results showed significant enrichment of CDH1 P/LP variants in patients with CSRCC, DGC, and LBC across different ethnicities. Future prospective studies are needed to further validate these findings.
BRITISH JOURNAL OF CANCER
(2022)
Article
Chemistry, Medicinal
Gianluca Tedaldi, Chiara Molinari, Celina Sao Jose, Rita Barbosa-Matos, Ana Andre, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Luca Saragoni, Paolo Morgagni, Francesca Rebuzzi, Matteo Canale, Sara Pignatta, Elisa Ferracci, Giovanni Martinelli, Guglielmina Nadia Ranzani, Carla Oliveira, Daniele Calistri, Paola Ulivi
Summary: This study aimed to elucidate the role of genetic variants and DNA methylation of CDH1 promoter and enhancers in the regulation of gene expression in gastric cancer. The results showed that alterations in terms of genetic variants and DNA methylation patterns of both promoter and enhancers are associated with CDH1 expression levels and have a role in its regulation. The study revealed different methylation patterns in patients and controls, GC cell lines and GC tissues, expressing different E-cadherin levels.
Article
Oncology
Zhiwen Pan, Zhixuan Fu, Cong Luo, Yejiang Bao, Mingli Wang, Wenming Cao, Xiaohong Xu
Summary: The frequency of CDH1 germline mutations in Chinese patients with HDGC is 7.4%, with new variants identified as N405Y and W409X. Among the 21 patients, up to 28.6% of CDH1 mutations were c.1775G>C (E551Q).
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2022)
Review
Oncology
Giulia Massari, Francesca Magnoni, Giorgio Favia, Nickolas Peradze, Paolo Veronesi, Carlo La Vecchia, Giovanni Corso
Summary: This study aimed to assess the frequency of CDH1 mutations in non-gastric tumors and found that CDH1 mutations are most commonly identified in breast cancer. The results show a higher frequency of missense mutations in non-gastric tumors, and suggest that CDH1 genetic testing should be considered in other cancers, especially breast tumors.
Review
Oncology
Giovanni Corso, Federica Corso, Federica Bellerba, Patricia Carneiro, Susana Seixas, Antonio Cioffi, Carlo La Vecchia, Francesca Magnoni, Bernardo Bonanni, Paolo Veronesi, Sara Gandini, Joana Figueiredo
Summary: E-cadherin germline mutations, particularly CDH1 gene mutations, are associated with hereditary diffuse gastric cancer syndrome. The frequency of CDH1 mutations varies across different geographical areas, with a higher incidence in low-prevalence countries. The type and relative frequency of CDH1 mutations also differ between study groups and regions, with missense variants more common in high-incidence areas. Identifying individuals with clinically significant CDH1 mutations is crucial for effective genetic screening and patient management in gastric cancer.
Article
Gastroenterology & Hepatology
Monika Laszkowska, Laura Tang, Elvira Vos, Stephanie King, Erin Salo-Mullen, Patrick T. Magahis, Miseker Abate, Amanda Catchings, Ann G. Zauber, Anne I. Hahn, Mark Schattner, Daniel Coit, Zsofia K. Stadler, Vivian E. Strong, Arnold J. Markowitz
Summary: This study aimed to identify endoscopic findings and biopsy practices associated with the detection of signet ring cell carcinoma (SRCC) in individuals with germline pathogenic CDH1 variants. The results showed that targeted biopsy sampling of gastric pale mucosal areas and increasing the number of biopsy samples taken can improve the detection of SRCC. The findings support updated endoscopic surveillance guidelines and further studies are needed to refine endoscopic protocols for detecting SRCC in this high-risk population.
GASTROINTESTINAL ENDOSCOPY
(2023)
Article
Health Care Sciences & Services
Giorgio Malpeli, Stefano Barbi, Giulio Innamorati, Mariella Alloggio, Federica Filippini, Ilaria Decimo, Claudia Castelli, Roberto Perris, Maria Bencivenga
Summary: Loss of CDH1/Cadherin-1 is a common step in gastric cancer development, associated with stem cell and epithelial-to-mesenchymal transition pathways. Increased expression of genes in CDH1-mutated gastric cancer cases is linked to reduced overall survival. Differential gene expression in different gastric cancer subtypes reveals potential cell transformation factors and therapeutic targets.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Genetics & Heredity
Giovanni Corso, Francesca Magnoni, Giulia Massari, Cristina Maria Trovato, Alessandra Margherita De Scalzi, Elisa Vicini, Bernardo Bonanni, Paolo Veronesi, Viviana Galimberti, Vincenzo Bagnardi
Summary: This study aimed to determine the frequency of different pathogenic CDH1 germline mutations in healthy and asymptomatic individuals from families with HDGC syndrome. The results showed that splicing and missense mutations in CDH1 were more commonly found in healthy individuals compared to those with gastric cancer in families meeting HDGC criteria. This suggests that not all pathogenic CDH1 germline mutations confer the same risk of developing gastric cancer.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Jihenne Ben Aissa-Haj, Maria Kabbage, Houcemeddine Othmen, Patrick Saulnier, Haifa Tounsi Kettiti, Amira Jaballah-Gabteni, Azer Ferah, Mouna Medhioub, Amal Khsiba, Moufida Mahmoudi, Afifa Maaloul, Sonia Ben Nasr, Emna Chelbi, Sonia Abdelhak, M. Samir Boubaker, Mohamed Mousaddak Azzouz, Etienne Rouleau
Summary: The study aimed to identify CDH1 and CTNNA1 gene mutational profiles predisposing to Hereditary Diffuse Gastric Cancer (HDGC) in Tunisia. Through sequencing and testing of 34 cases, three cases were found to carry pathogenic and likely pathogenic variants of the CDH1 gene, while no pathogenic CTNNA1 variants were found. These findings are important for the clinical management and etiology research of HDGC.
Article
Gastroenterology & Hepatology
Yin-Jie Zhang, Yang Yang, Qing Wei, Ting Xu, Xiao-Tian Zhang, Jing Gao, Si-Yi Tan, Bao-Rui Liu, Jing-Dong Zhang, Xiao-Bing Chen, Zhao-Jie Wang, Meng Qiu, Xin Wang, Lin Shen, Xi-Cheng Wang
Summary: This study reveals that approximately one in four Chinese GC patients may harbor pathogenic or likely pathogenic germline alterations, indicating a unique genetic background for GC among Chinese patients.
GASTROENTEROLOGY REPORT
(2021)
Article
Medicine, Research & Experimental
Pingping Xu, Danfeng Sun, Yaqi Gao, Yi Jiang, Ming Zhong, Gang Zhao, Jinxian Chen, Zheng Wang, Qiang Liu, Jie Hong, Haoyan Chen, Ying-Xuan Chen, Jing-Yuan Fang
Summary: Through whole-exome sequencing, we identified mutations in genes related to the Fanconi anemia DNA repair pathway in familial colorectal cancer patients, including CHEK2. Further experiments showed that CHEK2 plays a crucial role in cell cycle and DNA damage repair processes.
Article
Oncology
Yuanqiang Dong, Ning Song, Jun Wang, Liubin Shi, Ziqiang Zhang, Jianjun Du
Summary: Identifying driver genes is crucial in modern medical research, contributing to individualization and understanding the causes of cancer. This study used comprehensive gene expression and copy number analysis to identify mutation-based driver genes in gastric cancer (GC), finding prominent variations and candidate driver oncogenes associated with immune infiltration levels.
FRONTIERS IN ONCOLOGY
(2022)
Review
Oncology
Giovanni Corso
Summary: This article reviews the penetrance risks of gastric, breast, prostate, and colorectal cancers in CDH1 carriers within and outside the familial setting, as well as the best approaches to managing each risk.
JOURNAL OF SURGICAL ONCOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Kiyoshi Misawa, Daiki Mochizuki, Shiori Endo, Masato Mima, Yuki Misawa, Atsushi Imai, Kazuya Shinmura, Takeharu Kanazawa, Thomas E. Carey, Hiroyuki Mineta
MOLECULAR CARCINOGENESIS
(2017)
Article
Biochemistry & Molecular Biology
Kazuya Shinmura, Hisami Kato, Yuichi Kawanishi, Kimio Yoshimura, Hisaki Igarashi, Masanori Goto, Hong Tao, Yusuke Inoue, Takayuki Sugiyama, Hiroshi Furuse, Seiichiro Ozono, Haruhiko Sugimura
MOLECULAR CARCINOGENESIS
(2017)
Article
Cell Biology
Kazuya Shinmura, Hisami Kato, Masanori Goto, Hong Tao, Yusuke Inoue, Satoki Nakamura, Haruki Yoshida, Emi Tsuzaki, Haruhiko Sugimura
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
(2017)
Article
Oncology
Kazuya Shinmura, Hisami Kato, Yuichi Kawanishi, Takaharu Kamo, Yusuke Inoue, Katsuhiro Yoshimura, Kenta Sugiyama, Kiyoshi Misawa, Seiji Hosokawa, Hiroyuki Mineta, Haruhiko Sugimura
PATHOLOGY & ONCOLOGY RESEARCH
(2018)
Article
Oncology
Kiyoshi Misawa, Atsushi Imai, Daiki Mochizuki, Yuki Misawa, Shiori Endo, Seiji Hosokawa, Ryuji Ishikawa, Masato Mima, Kazuya Shinmura, Takeharu Kanazawa, Hiroyuki Mineta
Article
Oncology
Yusuke Inoue, Katsuhiro Yoshimura, Nobuya Kurabe, Tomoaki Kahyo, Akikazu Kawase, Masayuki Tanahashi, Hiroshi Ogawa, Naoki Inui, Kazuhito Funai, Kazuya Shinmura, Hiroshi Niwa, Takafumi Suda, Haruhiko Sugimura
Letter
Pathology
Haruna Yagi, Seishiro Takahashi, Kazuya Shinmura, Toshihide Iwashita, Hiroshi Ogawa
PATHOLOGY INTERNATIONAL
(2018)
Article
Oncology
Tomohiro Yamasaki, Naoto Sakai, Kazuya Shinmura, Hiroshi Kawaji, Shinichiro Koizumi, Tetsuro Samashima, Hiroki Namba
BRAIN TUMOR PATHOLOGY
(2018)
Review
Pathology
Takeharu Kanazawa, Kiyoshi Misawa, Kazuya Shinmura, Yuki Misawa, Gen Kusaka, Mikiko Maruta, Toru Sasaki, Yusuke Watanabe, Thomas E. Carey
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2019)
Article
Medicine, General & Internal
Seiji Hosokawa, Satoru Takebayashi, Yutaka Sasaki, Yuuki Nakamura, Kazuya Shinmura, Goro Takahashi, Hiroyuki Mineta
POSTGRADUATE MEDICINE
(2019)
Article
Biochemistry & Molecular Biology
Kazuya Shinmura, Hisami Kato, Yuichi Kawanishi, Masanori Goto, Hong Tao, Katsuhiro Yoshimura, Satoki Nakamura, Kiyoshi Misawa, Haruhiko Sugimura
FREE RADICAL BIOLOGY AND MEDICINE
(2019)
Article
Oncology
Kiyoshi Misawa, Takeharu Kanazawa, Daiki Mochizuki, Atsushi Imai, Masato Mima, Satoshi Yamada, Kotaro Morita, Yuki Misawa, Kazuya Shinmura, Hiroyuki Mineta
Article
Oncology
Kazuya Shinmura, Hisami Kato, Yuichi Kawanishi, Katsuhiro Yoshimura, Kazuo Tsuchiya, Yoshiyuki Takahara, Seiji Hosokawa, Akikazu Kawase, Kazuhito Funai, Haruhiko Sugimura
Article
Oncology
Katsuhiro Yoshimura, Yusuke Inoue, Masato Karayama, Kazuo Tsuchiya, Kazutaka Mori, Yuzo Suzuki, Yuji Iwashita, Tomoaki Kahyo, Akikazu Kawase, Masayuki Tanahashi, Hiroshi Ogawa, Koushi Yokomura, Naoki Inui, Kazuhito Funai, Kazuya Shinmura, Hiroshi Niwa, Takafumi Suda, Haruhiko Sugimura
Article
Oncology
Kazuya Shinmura, Kimihide Kusafuka, Hideya Kawasaki, Hisami Kato, Takahiko Hariyama, Kazuo Tsuchiya, Yuichi Kawanishi, Kazuhito Funai, Kiyoshi Misawa, Hiroyuki Mineta, Haruhiko Sugimura
Summary: The study found that primary cilia (PC) were present in salivary gland tumors (SGTs) with basaloid/myoepithelial differentiation components, but absent in those without. PC-positive SGTs exhibited longer PC than normal, a characteristic distribution pattern, activation of the Hedgehog pathway, and association with TTBK2 upregulation, indicating a significant link between SGT tumorigenesis and PC.
JOURNAL OF PATHOLOGY
(2021)