Article
Genetics & Heredity
Waleed Al Abdulmonem, Zafar Rasheed, Suliman A. Alsagaby, Abdullah S. M. Aljohani, Abdullah S. Alkhamiss, Ahmed Ali Ahmed
Summary: This study found that the ERCC2 (Lys751Gln) polymorphism was not associated with the risk of prostate cancer, while the ERCC2 (Asp312Asn) and XRCC1 (Arg399Gln) polymorphisms showed a significant association with an increased risk of prostate cancer. This genetic association was particularly pronounced in aged populations and smokers.
Article
Food Science & Technology
Dahui Yu, Daoli Wu, Chong Yuan, Hedan Zhang, Wenyan Chu
Summary: This study aimed to investigate the association between XPD Asp312Asn polymorphism and the risk of esophageal cancer in Chinese population. The meta-analysis showed no significant relationship between XPD Asp312Asn polymorphism and the risk of esophageal cancer in overall analyses and subgroup analyses.
FOOD SCIENCE AND TECHNOLOGY
(2022)
Article
Genetics & Heredity
Emanuele Agolini, Elena Botta, Mariachiara Lodi, Maria Cristina Digilio, Martina Rinelli, Emanuele Bellacchio, Viola Alesi, Tiziana Nardo, Giovanna Zambruno, Donata Orioli, Iside Alessi, Luigi Boccuto, Sabrina Rossi, Andrea Carai, Giovanna Stefania Colafati, Antonella Cacchione, Bruno Dallapiccola, Antonio Novelli, Angela Mastronuzzi
Summary: Bi-allelic inactivation of XPD protein, encoded by ERCC2 gene, has been associated with various defective DNA repair phenotypes. This study reports a pediatric patient with compound heterozygous variants in ERCC2 gene and a distinct phenotype, indicating an impact on DNA repair efficiency. Sequencing and SNP-array analysis revealed the molecular mechanisms underlying these phenotypes.
Article
Multidisciplinary Sciences
Jinmin Ma, Xuelian Shao, Fang Geng, Shuzhang Liang, Chunxiao Yu, Ruilin Zhang
Summary: This study reveals that mutations in ERCC2/XPD helicase cause organ hypoplasia and various abnormalities in zebrafish, including impaired proliferation of intestinal endothelial cells, mitochondrial abnormalities, autophagy, and inflammation. These abnormalities are associated with disrupted rRNA synthesis and nucleolar stress in a p53-independent manner, providing important insights into the molecular pathogenesis of ERCC2/XPD-related genetic disorders.
Article
Genetics & Heredity
Janine Reunert, Alijda van den Heuvel, Stephan Rust, Thorsten Marquardt
Summary: DNA damage repair is critical for cell survival, and mutations in the ERCC2 gene can cause COFS syndrome, resulting in a range of symptoms. The homozygous occurrence of the pathogenic variant Gly47Arg in XPD led to the early death of the patient at the age of 21 months.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Biochemistry & Molecular Biology
Shaid All Sahaba, Mohammad Abdur Rashid, Md Saiful Islam, Noor Ahmed Nahid, Mohd Nazmul Hasan Apu, Taposhi Nahid Sultana, Nusrat Islam Chaity, Md Mehedi Hasan, Mohammad Safiqul Islam
Summary: The study found an association between the ERCC2 rs13181 genotype and an increased risk of breast cancer (BC), while the ERCC4 rs2276466 genotype did not significantly impact the risk of BC in the Bangladeshi population.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Multidisciplinary Sciences
Taruna Rajagopal, Arun Seshachalam, Krishna Kumar Rathnam, Srikanth Talluri, Sivaramakrishnan Venkatabalasubramanian, Nageswara Rao Dunna
Summary: This study is the first to investigate the impact of HRR gene polymorphisms on breast cancer development in South Indian women. The results suggest that specific variants of XRCC3 and RAD51 genes are associated with breast cancer risk and progression.
Review
Environmental Sciences
Brenda Gamboa-Loira, Lizbeth Lopez-Carrillo, Yuliana Mar-Sanchez, Dalia Stern, Mariano E. Cebrian
Summary: Breast cancer is the most common cancer in women, and exposure to environmental pollutants, particularly polycyclic aromatic hydrocarbons (PAHs), is considered an important risk factor. This study systematically reviewed and meta-analyzed multiple studies and found a significant association between occupational and/or environmental exposure to PAHs and breast cancer. Certain gene polymorphisms, family history, and smoking status were found to strengthen this association.
Article
Multidisciplinary Sciences
Hui-Chen Wu, Hwai-I. Yang, Po-Han Lin, Chien-Jen Chen, Regina M. Santella, Mary Beth Terry
Summary: Breast cancer incidence is increasing in Taiwan, with factors like age at menarche and multiparity being associated with the risk, while polycyclic aromatic hydrocarbons (PAH) are not. Further research is needed to identify environmental factors important to this population.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Suliman Alsagaby, Ahmed A. Ahmed, Zafar Rasheed, Sami A. Althwab, Abdullah S. M. Aljohani, Fahad A. Alhumaydhi, Homaidan T. Alhomaidan, Abdullah S. Alkhamiss, Mohammad Alkhowailed, Aqeel Alaqeel, Mohamd A. Alblihed, Jihad Alrehaili, Nelson Fernandez, Waleed Al Abdulmonem
Summary: This study demonstrated that several gene polymorphisms, including ERCC2 rs13181, XRCC1 rs25487, and XRCC3 rs861539, are associated with susceptibility to lung cancer in the Saudi population. The study analyzed 134 lung cancer patients and 270 controls and found significant associations between these gene polymorphisms and squamous cell carcinoma, small cell lung cancer, and adenocarcinoma. Additionally, combined recessive genotypes were also found to be associated with lung cancer susceptibility.
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS
(2022)
Article
Biology
Christopher Hakkaart, John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes, Bridget A. Robinson, Peter D. Mace, Kristiina Aittomaki, Irene L. Andrulis, Banu K. Arun, Jacopo Azzollini, Judith Balmana, Rosa B. Barkardottir, Sami Belhadj, Lieke Berger, Marinus J. Blok, Susanne E. Boonen, Julika Borde, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Maria A. Caligo, Ian Campbell, Wendy K. Chung, Kathleen B. M. Claes, Marie-Agnes Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J. Couch, Mary B. Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Douglas F. Easton, Hans Ehrencrona, Christoph Engel, D. Gareth Evans, Ulrike Faust, Lidia Feliubadalo, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A. Gayther, Andrea Gehrig, Paul Gesta, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Eric Hahnen, Christopher R. Hake, Ute Hamann, Thomas V. O. Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J. Hulick, Evgeny N. Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Clementine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L. Mai, Siranoush Manoukian, Veronique Mari, John W. M. Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C. Rodriguez, Karina Ronlund, Efraim H. Rosenberg, Maria Rossing, Rita K. Schmutzler, Payal D. Shah, Saba Sharif, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Alison H. Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J. van Rensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N. Weitzel, Marike R. Wevers, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou, Logan C. Walker
Summary: The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed. CNVs overlapping SULT1A1 decrease breast cancer risk in BRCA1 carriers. Functional analyses show that reduced SULT1A1 expression is associated with reduced cellular proliferation and DNA damage.
COMMUNICATIONS BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Ami G. Sangster, Robert J. Gooding, Andrew Garven, Hamid Ghaedi, David M. Berman, Scott K. Davey
Summary: Muscle invasive bladder cancer is characterized by abundant mutations, particularly in DNA damage response and chromatin modification genes. The significance of these mutations and their interactions in the development and progression of the disease have been explored through the identification of mutually exclusive mutation patterns. The discovery of these patterns sheds light on the mechanisms underlying muscle invasive bladder cancer and may guide therapeutic development.
Article
Genetics & Heredity
Marc Donald Wilfried Adico, Abdou Azaque Zoure, Herman Karim Sombie, Touwendpoulimde Isabelle Kiendrebeogo, Soayebo Dabre, Lanyo Jospin Amegnona, Belele Simeon Bakyono, Lassina Traore, Teega-Wende Clarisse Ouedraogo, Rogomenoma Alice Ouedraogo, Theodora M. Zohoncon, Albert Theophane Yonli, Bagora Bayala, Hierrhum Aboubacar Bambara, Florencia W. Djigma, Jacques Simpore
Summary: This study aimed to evaluate the involvement of two DNA repair genes, ERCC1 and ERCC2, in the occurrence of breast cancer in Burkina Faso. The study found that the heterozygous genotype (CA) of the ERCC2rs13181 polymorphism may be associated with a risk of breast cancer, but this association became insignificant after the Bonferroni correction. No association was observed between ERCC1rs3212986 and ERCC2rs1799793 polymorphisms and breast cancer risk.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Oncology
Che Lin, Ding-Ru Chen, Shou-Jen Kuo, Chi-Yen Feng, Dar-Ren Chen, Wei-Chung Hsieh, Po-Hsiung Lin
Summary: The aim of this study was to analyze the effects of treatment on estrogen quinone-derived adducts in breast cancer patients. The results suggest that hormonal therapy can significantly reduce the burden of estrogen quinones.
Article
Oncology
Isabelle Gregga, Paul D. P. Pharoah, Simon A. Gayther, Ani Manichaikul, Hae Kyung Im, Siddhartha P. Kar, Joellen M. Schildkraut, Heather E. Wheeler
Summary: This study used genotype-to-protein prediction to investigate various types of cancer and their subtypes in a large European-ancestry population. The results identified several protein-cancer associations, which were further validated through replication experiments. Bayesian colocalization analysis provided additional support for these associations.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Immunology
T. Eiamsitrakoon, P. Tharabenjasin, N. Pabalan, A. Tasanarong
Summary: This study aimed to investigate the association of interferon gamma gene rs2430561 polymorphism with post-kidney transplantation allograft rejection. The results showed a significant increase in risk of rejection in both the overall and acute rejection subgroups, while a possible decreased risk was observed in the chronic rejection subgroup. Only the black subgroup displayed a significant increase in risk, but due to a small sample size, the association remains controversial.
TRANSPLANTATION PROCEEDINGS
(2021)
Article
Infectious Diseases
Noel Pabalan, Phuntila Tharabenjasin, Panan Suntornsaratoon, Hamdi Jarjanazi, Chatchai Muanprasat
Summary: The study found significant associations of the ACE gene insertion/deletion polymorphism with the risk of ALI/ARDS, particularly in Caucasians and children as well as in Asians in mortality analysis. These findings were supported by high significance, statistical power, and robustness, suggesting potential therapeutic implications for COVID-19 patients.
INFECTION GENETICS AND EVOLUTION
(2021)
Correction
Multidisciplinary Sciences
Phuntila Tharabenjasin, Noel Pabalan, Hamdi Jarjanazi
Article
Biochemistry & Molecular Biology
Rungrawee Mongkolrob, Phuntila Tharabenjasin, Aporn Bualuang, Hamdi Jarjanazi, Noel Pabalan
Summary: This study aimed to investigate the associations between polymorphisms in the LOX gene and susceptibility to cancer through meta-analysis. The results revealed a 1.4-1.6-fold increased risk of lung, ovarian, and cervical cancers associated with LOX, supported by robustness and high statistical power at the aggregate level.
GENETIC TESTING AND MOLECULAR BIOMARKERS
(2021)
Article
Immunology
Dana Ashoor, Noureddine Ben Khalaf, Maryam Marzouq, Hamdi Jarjanazi, Sadok Chlif, M. Dahmani Fathallah
Summary: Understanding SARS-CoV-2 infectivity involves studying the interactions between the virus Spike protein and the ACE2 receptor, impacted by RBD mutations and ACE2 polymorphism. Analysis shows that the majority of RBD point mutations destabilize the virus-receptor complex and different ACE2 variants lead to varying molecular interaction patterns and complex stability. Considering both ACE2 variants and SARS-CoV-2 RBD mutations is crucial for evaluating the stability of the virus-receptor association and infectivity.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2021)
Article
Medicine, Research & Experimental
Phuntila Tharabenjasin, Ronaldo P. Ferraris, Kiattawee Choowongkomon, Pawin Pongkorpsakol, Nichakorn Worakajit, Sutthipong Sawasvirojwong, Noel Pabalan, Kesara Na-Bangchang, Chatchai Muanprasat
Summary: This study demonstrated that BE can inhibit CFTR chloride channel function, reducing Cl- secretion. Additionally, BE had no adverse effects on T84 cell viability. Computational docking analysis suggested that BE could bind to the ATP-binding pockets of CFTR.
BIOMEDICINE & PHARMACOTHERAPY
(2021)
Review
Medicine, General & Internal
Noel Pabalan, Phanthip Chaweeborisuit, Phuntila Tharabenjasin, Adis Tasanarong, Hamdi Jarjanazi, Thanee Eiamsitrakoon, Pairath Tapanadechopone
Summary: A meta-analysis found that three CNR1 SNPs (rs1535255, rs2023239, and rs806379) were associated with the development of alcohol dependence, with rs1535255 showing stronger evidence of association than rs2023239. The rs806379 SNP was implicated in the Caucasian subgroup, while no significant effects were observed in African-Americans. Multiple statistical and meta-analytical features supported the strength of these outcomes, suggesting the potential clinical utility of CNR1 polymorphisms in alcohol dependence genetics.
Article
Endocrinology & Metabolism
P. Tharabenjasin, N. Pabalan, H. Jarjanazi, N. Jinawath
Summary: The meta-analysis confirmed a significant protective effect of OPG polymorphisms on fractures in older adults, especially in postmenopausal women, those aged >= 60, and Western populations.
OSTEOPOROSIS INTERNATIONAL
(2022)
Article
Obstetrics & Gynecology
Thanakorn Heetchuay, Thotsapon Trakulmungkichkarn, Noel Pabalan, Nutthaphon Imsom-Somboon
Summary: This study established reference values for fetal atrioventricular (AV) time intervals (FAVTI) obtained from antegrade late diastolic arterial blood flow (ALDAF) aorta (AO) and pulmonary artery (PA) from 14 to 40 weeks of gestation. The correlation between FAVTI and gestational age (GA) was identified, with GA having the strongest impact on ALDAF-AO FAVTI. The findings support the clinical use of FAVTI measurements from ALDAF-AO/ALDAF-PA for diagnosing congenital heart block.
CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY
(2021)
Article
Urology & Nephrology
Brian J. Morris, Jim G. Matthews, Noel Pabalan, Stephen Moreton, John N. Krieger
Summary: The relationship between circumcision and prostate cancer has been controversial, with conflicting results from different meta-analyses. Our independent meta-analysis showed a negative association between circumcision and prostate cancer, contradicting previous findings. Errors in data transposition by Van Howe led to an incorrect positive association, highlighting the importance of accurate data analysis in scientific research.
CANADIAN JOURNAL OF UROLOGY
(2021)