Article
Genetics & Heredity
Benjamin L. Green, Grace-Ann Fasaye, Sarah G. Samaranayake, Anna Duemler, Lauren A. Gamble, Jeremy L. Davis
Summary: Pathogenic and likely pathogenic variants in the CDH1 gene are associated with increased risk of gastric and breast cancers, as well as hereditary cleft lip and palate (CLP). This study aimed to determine the prevalence of CLP in families with these variants. The results showed a high prevalence of CLP in families carrying CDH1 variants, with no clear genotype-phenotype pattern. Genetic testing for CDH1 should be considered in families with CLP and a history of gastric or lobular breast cancer.
FRONTIERS IN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Anna Jaruga, Jakub Ksiazkiewicz, Krystian Kuzniarz, Przemko Tylzanowski
Summary: Many complex molecular interactions are involved in craniofacial development, making it susceptible to genetic mutations that cause congenital malformations. Orofacial clefts and prognathism are common birth anomalies within the head and neck. Both can occur as isolated abnormalities or in combination with syndromic disorders, and are often hereditary. This review summarizes current knowledge of the genetics and genotype-phenotype correlations of these phenotypes, and discusses animal models used to study these defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Devarshi R. Ardeshna, Shiva Rangwani, Troy Cao, Timothy M. Pawlik, Peter P. Stanich, Somashekar G. Krishna
Summary: Hereditary pancreatic cancer accounts for about 10% of pancreatic cancer diagnoses. Early detection of pre-cancerous pancreatic cysts, such as intraductal papillary mucinous cystic neoplasms (IPMNs), has become an important focus to reduce pancreatic cancer incidence and mortality. This review explores the prevalence of IPMNs in patients with hereditary pancreatic cancer and their relatives, and discusses the need for surveillance changes in high-risk individuals.
Article
Oncology
Samuel A. Schueler, Lauren A. Gamble, Bryan F. Curtin, Samantha M. Ruff, Maureen Connolly, Cathleen Hannah, Martha Quezado, Markku Miettinen, Maureen George, Andrew M. Blakely, Jonathan M. Hernandez, Theo Heller, Christopher Koh, Jeremy L. Davis
Summary: Confocal endomicroscopy alone has low sensitivity for occult cancer detection in CDH1 variant carriers, although it appeared no worse than the current recommended method and required fewer biopsies per patient. A more reliable endoscopic surveillance is needed as a viable alternative to surgery in this high-risk population.
JOURNAL OF GASTROINTESTINAL ONCOLOGY
(2021)
Article
Genetics & Heredity
Jennifer Thalita Targino dos Santos, Reginaldo Cruz Alves Rosa, Alison Luis Eburneo Pereira, Alan Vinicius Assuncao-Luiz, Bruna Tavares Bacala, Victor Evangelista de Faria Ferraz, Milena Floria
Summary: This study aimed to estimate the risk of hereditary neoplastic condition (HNS) in women with proficient DNA mismatch repair (pMMR) endometrial tumors by analyzing their family history (FH). The results showed a significant proportion of women with increased HNS risk, highlighting the importance of FH and the need for healthcare professionals to collect and document FH more frequently.
Article
Dentistry, Oral Surgery & Medicine
Yao Xiao, Shengbo Jiao, Miao He, Da Lin, Huanyan Zuo, Jiahao Han, Yonghua Sun, Gang Cao, Zhi Chen, Huan Liu
Summary: This study utilizes an integrated epigenomic dataset to identify functional variants associated with orofacial clefts, providing a framework for risk assessment and understanding of clefts.
INTERNATIONAL JOURNAL OF ORAL SCIENCE
(2022)
Article
Pathology
Olivier T. Giger, Rogier ten Hoopen, David Shorthouse, Shukri Abdullahi, Venkata Ramesh Bulusu, Saili Jadhav, Eamonn R. Maher, Ruth T. Casey
Summary: MGMT promoter hypermethylation is exclusively found in a subset of SDH-deficient wtGIST, indicating potential utility as a predictor for therapeutic efficacy of TMZ in these patients.
JOURNAL OF CLINICAL PATHOLOGY
(2022)
Article
Oncology
Anna Maria Kastner, Josefine Fischer-Jacobs, Jan Brederecke, Andrea Hahne, Tanja Zimmermann
Summary: The present study aims to assess distress, anxiety, and depression in adult carriers with hereditary cancer syndromes and identify risk groups and predictors for clinicians. The results suggest that the psychosocial consequences of hereditary cancer syndromes are serious and regular screening for anxiety and depression is recommended for carriers.
Article
Cell Biology
Irene Gullo, Rachel S. van der Post, Fatima Carneiro
Summary: Despite being rare, recognizing key features of hereditary gastric cancer syndromes is essential for appropriate treatment. The article focuses on HDGC and emphasizes the importance of understanding different phenotypes of lesions, as well as the increased risk of gastric malignancies in patients with other hereditary cancer syndromes.
Article
Medicine, General & Internal
Huseyin Alakus, Mustafa Kaya, Hatice Ozer, Hatice Reyhan Egilmez, Kursat Karadayi
Summary: ADAM10 expression may be used as a prognostic marker in gastric adenocarcinoma, but does not show significant association with clinicopathological parameters, indicating a need for a standardized scoring system.
PAKISTAN JOURNAL OF MEDICAL SCIENCES
(2021)
Article
Medicine, General & Internal
Xiaofeng Xu, Feng Gao, Jianjiang Wang, Cong Long, Lan Tao, Li Ding, Yong Ji
Summary: This study investigated the expression of microRNA-216a-5p in gastric cancer tissues and its interaction with TCTN1 in suppressing gastric cancer progression. The results showed that microRNA-216a-5p was significantly downregulated in gastric cancer tissues and its low expression was associated with increased metastasis and poor prognosis. Functional experiments demonstrated that microRNA-216a-5p inhibited the proliferation and migration of gastric cancer cells by regulating TCTN1. These findings suggest that microRNA-216a-5p plays a critical role in gastric cancer development and may serve as a potential therapeutic target.
Article
Biochemistry & Molecular Biology
Anna-Sophia Lieselott Beyer, Daniel Kaemmerer, Joerg Saenger, Katja Evert, Amelie Lupp
Summary: FAM159B, an adaptor protein, plays crucial roles in various cell signalling pathways. Experimental validation showed its expression in neuronal and neuroendocrine tissues and high expression levels in different types of tumors, making the antibody HPA011778 a useful tool for researching and detecting FAM159B expression in tissue samples.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Nicolas Waespe, Fabien N. Belle, Shelagh Redmond, Christina Schindera, Ben D. Spycher, Jochen Roessler, Marc Ansari, Claudia E. Kuehni
Summary: Childhood cancer patients have a higher risk of developing second primary neoplasms (SPNs), especially those with cancer predisposition syndromes (CPSs). Risk factors for SPNs include CPSs, chemotherapy, radiotherapy, haematopoietic stem cell transplantation, and older age at first primary neoplasm diagnosis.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Medicine, General & Internal
Lu Li, Zhe Zhao, Lin Dong, Jia Jia, Ke Su, Hua Bai, Jie Wang
Summary: This case report presented a renal carcinoma patient with an unknown variant related to Lynch syndrome. Sequencing revealed a germline MSH2 mutation in the patient and this variant was co-segregated among family members. After immunotherapy, a marked regression of skin tumors was observed.
FRONTIERS IN MEDICINE
(2022)
Article
Oncology
Mengzhu Lv, Simeng Zhang, Yuqing Dong, Liu Cao, Shu Guo
Summary: PolG plays a role in the prognosis of GC patients by affecting the glycolysis process and proliferation of GC cells. Silencing PolG enhances the proliferation ability of GC cells, as confirmed in both in vivo and in vitro experiments. This study identifies PolG as a potential novel therapeutic target for the treatment of GC, providing new insights into clinical GC therapy.
CANCER MANAGEMENT AND RESEARCH
(2021)
Article
Oncology
Theodora Malli, Veronika Buxhofer-Ausch, Melanie Rammer, Martin Erdel, Wolfgang Kranewitter, Holger Rumpold, Renate Marschon, Sabine Deutschbauer, Ingrid Simonitsch-Klupp, Peter Valent, Kirsten Muellner-Ammer, Christian Sebesta, Thomas Birkner, Gerald Webersinke
GENES CHROMOSOMES & CANCER
(2016)
Article
Genetics & Heredity
Theodora Malli, Melanie Rammer, Sabrina Haslinger, Jonathan Burghofer, Sonja Burgstaller, Hans-Christian Boesmueller, Renate Marschon, Wolfgang Kranewitter, Martin Erdel, Sabine Deutschbauer, Gerald Webersinke
MOLECULAR CYTOGENETICS
(2018)
Article
Oncology
Melanie Rammer, Gerald Webersinke, Sophie Haitchi-Petnehazy, Eva Maier, Hubert Hackl, Pornpimol Charoentong, Theodora Malli, Maria Steinmair, Andreas L. Petzer, Holger Rumpold
CLINICAL & EXPERIMENTAL METASTASIS
(2017)