Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Kohei Yamashita, Matheus Sewastjanow-Silva, Katsuhiro Yoshimura, Jane E Rogers, Ernesto Rosa Vicentini, Melissa Pool Pizzi, Yibo Fan, Gengyi Zou, Jenny J Li, Mariela Blum Murphy, Qiong Gan, Rebecca E Waters, Linghua Wang, Jaffer A Ajani
BACKGROUND: The clinical impact of SMARCA4 mutations (SMARCA4ms) in gastroesophageal adenocarcinoma (GEA) remains underexplored. This study aimed to examine the association of SMARCA4ms with clinical outcomes and co-occurrence with other gene mutations identified through a next-generation sequencing (NGS) panel in GEA patients. METHODS: A total of 256 patients with metastatic or recurrent GEA who underwent NGS panel profiling at the MD Anderson Cancer Center between 2016 and 2022 were included...
March 27, 2024: Cancers
#2
JOURNAL ARTICLE
Asim Saha, Rahul Palchaudhuri, Leanne Lanieri, Sharon Hyzy, Megan J Riddle, Jamie Panthera, Cindy Eide, Jakub Tolar, Angela Panoskaltsis-Mortari, Lev Gorfinkel, Victor Tkachev, Ulrike Gerdemann, Francesca Alvarez-Calderon, Elisa Rojas Palato, Margaret L MacMillan, John E Wagner, Leslie S Kean, Mark Osborn, Hans-Peter Kiem, David T Scadden, Lisa M Olson, Bruce R Blazar
Fanconi anemia (FA) is an inherited DNA repair disorder characterized by bone marrow (BM) failure, developmental abnormalities, myelodysplasia, and leukemia and solid tumor predisposition. Allogeneic hematopoietic stem cell transplantation (allo-HSCT), a mainstay treatment, is limited by conditioning regimen-related toxicity and graft-versus-host disease (GVHD). Antibody-drug-conjugates (ADCs) targeting hematopoietic stem cells (HSCs) can open marrow niches permitting donor stem cell alloengraftment. Here, we report that single dose anti-mouse CD45-targeted-ADC (CD45-ADC) facilitated stable, multilineage chimerism in 3 distinct FA mouse models representing 90% of FA complementation groups...
March 6, 2024: Blood
#3
JOURNAL ARTICLE
M Brandon Lehrich, C L Charles Tong, P K Frank Hsu, C Edward Kuan
PURPOSE: Craniopharyngiomas are rare tumors originating in the sellar region, with limited information on their somatic mutational landscape. In this study, we utilized a publicly available genomic database to profile the somatic mutational landscape of craniopharyngioma patients and interrogate differences based on histologic subtype. METHODS: We utilized the American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE)® database accessed from cBioPortal (v13...
February 29, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#4
JOURNAL ARTICLE
D Olmos, D Lorente, D Alameda, C Cattrini, N Romero-Laorden, R Lozano, P P Lopez-Casas, A Jambrina, C Capone, A M Vanden Broecke, M Trevisan, S Van Sanden, A Jürgens, B Herrera-Imbroda, E Castro
BACKGROUND: Although germline BRCA mutations have been associated with adverse outcomes in prostate cancer (PC), understanding of the association between somatic/germline alterations in homologous recombination repair (HRR) genes and treatment outcomes in metastatic castration-resistant PC (mCRPC) is limited. The aim of this study was to investigate the prevalence and outcomes associated with somatic/germline HRR alterations, particularly BRCA1/2, in patients initiating first-line (1L) mCRPC treatment with androgen receptor signalling inhibitors (ARSi) or taxanes...
February 10, 2024: Annals of Oncology: Official Journal of the European Society for Medical Oncology
#5
JOURNAL ARTICLE
Shuo Li, Josephine K Dermawan, Caleb N Seavey, Shuang Ma, Cristina R Antonescu, Brian P Rubin
Epithelioid hemangioendothelioma (EHE) is a rare endothelial sarcoma associated with a high incidence of metastases and for which there are no standard treatment options. Based on disease-defining mutations, most EHEs are classified into two subtypes: WWTR1::CAMTA1-fused EHE or YAP1::TFE3-fused EHE. However, rare non-canonical fusions have been identified in clinical samples of EHE cases and are challenging to classify. In this study, we report the identification of a novel WWTR1::TFE3 fusion variant in an EHE patient using targeted RNA sequencing...
February 2024: Genes, Chromosomes & Cancer
#6
JOURNAL ARTICLE
Siao Muk Cheng, Yung-Yeh Su, Nai-Jung Chiang, Chih-Jung Wang, Ying-Jui Chao, Chien-Jui Huang, Hui-Jen Tsai, Shang-Hung Chen, Chi-Yen Chang, Chia-Rung Tsai, Yi-Jie Li, Chia-Jui Yen, Shih-Chang Chuang, Jeffrey Shu-Ming Chang, Yan-Shen Shan, Daw-Yang Hwang, Li-Tzong Chen
BACKGROUND: Cancer susceptibility germline mutations are associated with pancreatic ductal adenocarcinoma (PDAC). However, the hereditary status of PDAC and its impact on survival is largely unknown in the Asian population. METHODS: Exome sequencing was performed on 527 blood samples from PDAC individuals and analyzed for mutations in 80 oncogenic genes. Pathogenic and likely pathogenic (P/LP) germline variants were diagnosed according to the ACMG variant classification categories...
February 13, 2024: Journal of Biomedical Science
#7
JOURNAL ARTICLE
Fangyuan Zhang, Xiaohua Guo, Lihong Ye, Shicheng Yu
Fanconi anemia (FA) is the predominant hereditary syndrome of bone marrow failure (BMF), distinguished by impairments in DNA repair mechanisms. The deficiency in the FANC pathway, which governs DNA repair and replication rescue, results in aberrant responses to DNA damage in individuals with FA. The objective of this study is to examine the involvement of the FANC core complex in BMF and ascertain nucleolar homeostasis-related genes by conducting transcriptome analysis on primary hematopoietic stem cells obtained from FA patients with FANCA and FANCC variants...
February 12, 2024: Biochemical Genetics
#8
JOURNAL ARTICLE
Rufus O Akinyemi, Hemant K Tiwari, Vinodh Srinivasasainagendra, Onoja Akpa, Fred S Sarfo, Albert Akpalu, Kolawole Wahab, Reginald Obiako, Morenikeji Komolafe, Lukman Owolabi, Godwin O Osaigbovo, Olga A Mamaeva, Brian A Halloran, Joshua Akinyemi, Daniel Lackland, Olugbo Y Obiabo, Taofik Sunmonu, Innocent I Chukwuonye, Oyedunni Arulogun, Carolyn Jenkins, Abiodun Adeoye, Atinuke Agunloye, Okechukwu S Ogah, Godwin Ogbole, Adekunle Fakunle, Ezinne Uvere, Motunrayo M Coker, Akinkunmi Okekunle, Osahon Asowata, Samuel Diala, Mayowa Ogunronbi, Osi Adeleye, Ruth Laryea, Raelle Tagge, Sunday Adeniyi, Nathaniel Adusei, Wisdom Oguike, Paul Olowoyo, Olayinka Adebajo, Abimbola Olalere, Olayinka Oladele, Joseph Yaria, Bimbo Fawale, Philip Ibinaye, Olalekan Oyinloye, Yaw Mensah, Omotola Oladimeji, Josephine Akpalu, Benedict Calys-Tagoe, Hamisu A Dambatta, Adesola Ogunniyi, Rajesh Kalaria, Donna Arnett, Charles Rotimi, Bruce Ovbiagele, Mayowa O Owolabi
BACKGROUND: African ancestry populations have the highest burden of stroke worldwide, yet the genetic basis of stroke in these populations is obscure. The Stroke Investigative Research and Educational Network (SIREN) is a multicenter study involving 16 sites in West Africa. We conducted the first-ever genome-wide association study (GWAS) of stroke in indigenous Africans. METHODS: Cases were consecutively recruited consenting adults (aged > 18 years) with neuroimaging-confirmed ischemic stroke...
February 5, 2024: Genome Medicine
#9
JOURNAL ARTICLE
Feng-Die Huang, Yan-Ping Zhong, Guang-Yu Sun, Qi-Jiang Xu, Zhi-Yong Xing, Ke-Heng Chen, Lu-Sheng Liao, Ming-You Dong
BACKGROUND: Liver hepatocellular carcinoma (LIHC) is a serious liver disease worldwide, and its pathogenesis is complicated. AIMS: This study investigated the potential role of FANCA in the advancement and prognosis of LIHC. METHODS: Public databases, quantitative reverse transcription polymerase chain reaction (qRT-PCR), western blot (WB) and immunohistochemistry (IHC) were employed to measure FANCA expression between tumor and normal samples...
January 28, 2024: Digestive Diseases and Sciences
#10
JOURNAL ARTICLE
Mai Atique, Isis Muniz, Fatemeh Farshadi, Michael Hier, Alex Mlynarek, Marco Macarella, Mariana Maschietto, Belinda Nicolau, Moulay A Alaoui-Jamali, Sabrina Daniela da Silva
(1) Background: Head and neck cancer (HNC) ranks as the sixth most prevalent cancer in the world. In addition to the traditional risk factors such as alcohol and tobacco consumption, the implication of the human papillomavirus (HPV) is becoming increasingly significant, particularly in oropharyngeal cancer (OPC). (2) Methods: This study is based on a review analysis of different articles and repositories investigating the mutation profile of HPV-related OPC and its impact on patient outcomes. (3) Results: By compiling data from 38 datasets involving 8311 patients from 12 countries, we identified 330 genes that were further analyzed...
December 21, 2023: Biomedicines
#11
JOURNAL ARTICLE
Wen Ouyang, Jing Yu, Zihang Zeng, Jun Gong, Junhong Zhang, Conghua Xie
BACKGROUND: Almost all patients with small cell lung cancer (SCLC) relapse. The therapeutic options of relapsed SCLC are limited, and the clinical outcomes are poor. Thus, genomic profiling of relapsed SCLC patients may help to develop more effective therapeutic options. METHODS: We collected blood specimens and follow-up information from a consecutive cohort of 31 patients diagnosed with relapsed SCLC in Zhongnan Hospital, Wuhan University, between 2018 and 2019, to analyze the comprehensive genomic profiling, and to investigate the impact of genomic alterations on therapeutic options and survival...
December 30, 2023: Journal of Thoracic Disease
#12
JOURNAL ARTICLE
Qian Wang, Jia Liu, Yixinhe Zhong, Dongbo Li, Yusen Zhong, Huazhong Ying, Tingting Zhang
Fanconi anemia (FA) is a genetically and clinically heterogenous inherited disorder. Clinically, Fanca subtype patients exhibited milder phenotypes compared to Fancd2 subtypes. Increasing evidence suggests that Fancd2 perform independent functions, but the detailed mechanisms are not well characterized. In this study, we developed a Fanca KO mice model in C57BL/6 background with ATG region deletion, then performed a detailed FA phenotypes characterization and analysis with Fanca KO mice and Fancd2 KO mice in the same congenic background...
December 31, 2023: Biochemical and Biophysical Research Communications
#13
JOURNAL ARTICLE
Dimitrios C Ziogas, Eirini Papadopoulou, Helen Gogas, Stratigoula Sakellariou, Evangellos Felekouras, Charalampos Theocharopoulos, Dimitra T Stefanou, Maria Theochari, Ioannis Boukovinas, Dimitris Matthaios, Anna Koumarianou, Eleni Zairi, Michalis Liontos, Konstantinos Koutsoukos, Vasiliki Metaxa-Mariatou, George Kapetsis, Angeliki Meintani, Georgios N Tsaousis, George Nasioulas
Despite ongoing oncological advances, pancreatic ductal adenocarcinoma (PDAC) continues to have an extremely poor prognosis with limited targeted and immunotherapeutic options. Its genomic background has not been fully characterized yet in large-scale populations all over the world. Methods: Replicating a recent study from China, we collected tissue samples from consecutive Greek patients with pathologically-confirmed metastatic/unresectable PDAC and retrospectively investigated their genomic landscape using next generation sequencing (NGS)...
December 19, 2023: Cancers
#14
JOURNAL ARTICLE
Settara C Chandrasekharappa, Ramanagouda Ramangoudr-Bhojappa, Francis P Lach, Frank X Donovan, Rochelle Maxwell, Allana Rosenberg, Margaret L MacMillan, John E Wagner, Arleen D Auerbach, Agata Smogorzewska, Rebecca K Tryon
Fanconi anemia (FA) is a hereditary, DNA repair deficiency disorder caused by pathogenic variants in any one of the 22 known genes (FANCA-FANCW). Variants in FANCA account for nearly two-thirds of all FA patients. Clinical presentation of FA can be heterogeneous and include congenital abnormalities, progressive bone marrow failure, and predisposition to cancer. Here we describe a relatively mild disease manifestation among six individuals diagnosed with FA, each compound heterozygous for one established pathogenic FANCA variant and one FANCA exon 36 variant, c...
January 8, 2024: Blood Advances
#15
JOURNAL ARTICLE
Zhong Xu, Junjing Wu, Yu Zhang, Mu Qiao, Jiawei Zhou, Yue Feng, Zipeng Li, Hua Sun, Ruiyi Lin, Zhongxu Song, Haizhong Zhao, Lianghua Li, Nanqi Chen, Yujie Li, Favour Oluwapelumi Oyelami, Xianwen Peng, Shuqi Mei
BACKGROUND: Jianli pig, a renowned indigenous breed in China, has the characteristics of a two-end black (TEB) coat color, excellent meat quality, strong adaptability and increased prolificacy. However, there is limited information available regarding the genetic diversity, population structure and genomic regions under selection of Jianli pig. On the other hand, the genetic mechanism of TEB coat color has remained largely unknown. RESULTS: In this study, the whole genome resequencing of 30 Jianli pigs within a context of 153 individuals representing 13 diverse breeds was performed...
January 2, 2024: BMC Genomics
#16
JOURNAL ARTICLE
Oscar Alonso-Luna, Gabriela E Mercado-Celis, Jorge Melendez-Zajgla, Rodrigo Barquera, Marta Zapata-Tarres, Luis Enrique Juárez-Villegas, Elvia Cristina Mendoza-Caamal, Elianeth Rey-Helo, Socorro Aida Borges-Yañez
BACKGROUND: Childhood cancer is one of the primary causes of disease-related death in 5- to 14-year-old children and currently no prevention strategies exist to reduce the incidence of this disease. Childhood cancer has a larger hereditary component compared with cancer in adults. Few genetic studies have been conducted on children with cancer. Additionally, Latin American populations are underrepresented in genomic studies compared with other populations. Therefore, the aim of this study is to analyze germline mutations in a group of mixed-ancestry Mexican pediatric patients with solid and hematological cancers...
December 13, 2023: Molecular Genetics & Genomic Medicine
#17
JOURNAL ARTICLE
Cássio Augusto Bettim, Alexsandro Vasconcellos da Silva, Alessandro Kahmann, Márcio Dorn, Clarice Sampaio Alho, Eduardo Avila
BACKGROUND: Forensic DNA phenotyping (FDP) consists of the use of methodologies for predicting externally visible characteristics (EVCs) from the genetic material of biological samples found in crime scenes and has proven to be a promising tool in aiding human identification in police activities. Currently, methods based on multiplex assays and statistical models of prediction of EVCs related to hair, skin, and iris pigmentation using panels of SNP and INDEL biomarkers have already been developed and validated by the forensic scientific community...
December 13, 2023: International Journal of Legal Medicine
#18
JOURNAL ARTICLE
Ryan M Kahn, Pier Selenica, Thomas Boerner, Kara Long Roche, Yonghong Xiao, Tiffany Y Sia, Anna Maio, Yelena Kemel, Margaret Sheehan, Erin Salo-Mullen, Kelsey E Breen, Qin Zhou, Alexia Iasonos, Rachel N Grisham, Roisin E O'Cearbhaill, Dennis S Chi, Michael F Berger, Ritika Kundra, Nikolaus Schultz, Lora H Ellenson, Zsofia K Stadler, Kenneth Offit, Diana Mandelker, Carol Aghajanian, Dmitriy Zamarin, Paul Sabbatini, Britta Weigelt, Ying L Liu
OBJECTIVE: To define molecular features of ovarian cancer (OC) with germline pathogenic variants (PVs) in non-BRCA homologous recombination (HR) genes and analyze survival compared to BRCA1/2 and wildtype (WT) OC. METHODS: We included patients with OC undergoing tumor-normal sequencing (MSK-IMPACT) from 07/01/2015-12/31/2020, including germline assessment of BRCA1/2 and other HR genes ATM, BARD1, BRIP1, FANCA, FANCC, NBN, PALB2, RAD50, RAD51B, RAD51C, and RAD51D...
December 1, 2023: Gynecologic Oncology
#19
JOURNAL ARTICLE
Yina Jiang, Yinying Wu, Liwen Zhang, Yan Wang, Guiping Xu, Yuan Deng, Liang Han, Enxiao Li, Qingyong Ma, Mian Xu, Zheng Wu, Zheng Wang
Adenosquamous carcinoma of the pancreas (ASCP) is a rare histological subtype of pancreatic cancer with a poor prognosis and a high metastasis rate. However, little is known about its genomic landscape and prognostic biomarkers. A total of 48 ASCP specimens and 98 pancreatic ductal adenocarcinoma (PDAC) tumour specimens were sequenced to explore the genomic landscape and prognostic biomarkers. The homozygous deletion of the 9p21.3 region (including CDKN2A, CDKN2B , and MTAP) (9p21 loss) occurred in both ASCP and PDAC, and a higher frequency of 9p21 loss was observed in ASCP (12...
December 2023: Precision Clinical Medicine
#20
JOURNAL ARTICLE
Changkun Zhang, Xia You, Qin Zhang, Dong Wang
Cholangiocarcinoma (CCA) is a primary malignancy which is often diagnosed when it is advanced and inoperable due to the lack of effective biomarkers and poor sensitivity of clinical diagnosis. Molecular profiling may provide information for improved clinical management, particularly targeted therapy. The study aimed to improve the understanding of molecular characteristics and its association with prognosis in Chinese CCA. We enrolled 41 Chinese patients with CCA, including 6 intrahepatic CCA (iCCA), 14 perihilar CCA (pCCA), and 21 distal CCA (dCCA) cases, all patients underwent radical operations and tumor samples underwent next-generation sequencing (NGS) by Foundation One Dx, which analyzed 324 genes...
November 17, 2023: Investigational New Drugs
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
