Results 41 to 50 of about 222,747 (199)

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

Molecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes, Mario Ortega Duran, Solon Karapanagiotis, Alistair Martin, Meiling Gao, Riccardo Masina, Ramona Woitek, James Tanner, Fleur Tippin, Justine Kane, Jonathan Lay, Anja Brouwer, Stephen‐John Sammut, Suet‐Feung Chin, Davina Gale, Dana W. Y. Tsui, Sarah‐Jane Dawson, Nitzan Rosenfeld, Maurizio Callari, Oscar M. Rueda, Carlos Caldas   +20 more
wiley   +1 more source

Genomic signatures of past and present chromosomal instability in Barrett’s esophagus and early esophageal adenocarcinoma

Nature Communications, 2023
The progression of precancerous lesions to malignancy is often accompanied by increasing complexity of chromosomal alterations but how these alterations arise is poorly understood.
Chunyang Bao, Richard W. Tourdot, Gregory J. Brunette, Chip Stewart, Lili Sun, Hideo Baba, Masayuki Watanabe, Agoston T. Agoston, Kunal Jajoo, Jon M. Davison, Katie S. Nason, Gad Getz, Kenneth K. Wang, Yu Imamura, Robert Odze, Adam J. Bass, Matthew D. Stachler, Cheng-Zhong Zhang   +17 more
doaj   +1 more source

Multi‐omic characterization of consensus molecular subtype 1 (CMS1) colorectal cancer with dampened immune response improves precision medicine

Molecular Oncology, EarlyView.
This study highlights the importance of multi‐omic analyses in characterizing colorectal cancers. Indeed, our analysis revealed a rare CMS1 exhibiting dampened immune activation, including reduced PD‐1 expression, moderate CD8+ T‐cell infiltration, and suppressed JAK/STAT pathway.
Livia Concetti, Manuel Scimeca, Julia Bischof, Jonathan Woodsmith, Massimiliano Agostini, Cristina Fiorani, Yufang Shi, Eleonora Candi, Gerry Melino, Alessandro Mauriello, Giuseppe S. Sica   +10 more
wiley   +1 more source

Validation of phylogenetic informative Y-InDels in Y-chromosomal haplogroup O-M175

Frontiers in Genetics, 2023
The Y-chromosomal haplogroup tree, which consists of a group of Y-chromosomal loci with phylogenetic information, has been widely applied in anthropology, archaeology and population genetics.
Zhihan Zhou, Zhimin Li, Yining Yao, Jinglei Qian, Qiqi Ji, Chengchen Shao, Jianhui Xie   +6 more
doaj   +1 more source

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

Molecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes   +17 more
wiley   +1 more source

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Data‐driven discovery of gene expression markers distinguishing pediatric acute lymphoblastic leukemia subtypes

Molecular Oncology, EarlyView.
This study investigates gene expression differences between two major pediatric acute lymphoblastic leukemia (ALL) subtypes, B‐cell precursor ALL, and T‐cell ALL, using a data‐driven approach consisting of biostatistics and machine learning methods. Following analysis of a discovery dataset, we find a set of 14 expression markers differentiating the ...
Mona Nourbakhsh, Nikola Tom, Anna Schrøder Lassen, Helene Brasch Lind Petersen, Ulrik Kristoffer Stoltze, Karin Wadt, Kjeld Schmiegelow, Matteo Tiberti, Elena Papaleo   +8 more
wiley   +1 more source

Pattern of Chromosomal Aberrations in Patients from North East Iran [PDF]

Cell Journal, 2013
Objective: Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques ...
Saeedeh Ghazaey, Farzaneh Mirzaei, Mitra Ahadian, Fatemeh Keifi, Semiramis Tootian, Mohammad Reza Abbaszadegan   +5 more
doaj  

Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

Clinics and Practice, 2016
A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses.
Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita   +2 more
doaj   +1 more source

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Frontiers in Cellular Neuroscience, 2020
Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi, Miho Takami, Mami Matsuo-Takasaki   +2 more
doaj   +1 more source