Results 121 to 130 of about 632,786 (261)

ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma‐cfDNA of advanced breast cancer patients: A feasibility proof‐of‐concept study

Molecular Oncology, EarlyView.
Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou, Athina Markou, Eleonora Nicolo, Mara S Serafini, Qiang Zhang, Youbin Zhang, Lorenzo Gerratana, Andrew A. Davis, Huiping Liu, William J Gradishar, Carolina Reduzzi, Massimo Cristofanilli, Evi Lianidou   +12 more
wiley   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Current and Future Applications of Artificial Intelligence in Clinical Genetics. [PDF]

Cureus
Lawrence J.
europepmc   +1 more source

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. [PDF]

Pediatr Res, 2023
Wojcik MH, Bresnahan M, Del Rosario MC, Ojeda MM, Kritzer A, Fraiman YS.   +5 more
europepmc   +1 more source

Proteasome inhibitor, ixazomib prevents topoisomerase‐I degradation and reverses irinotecan resistance in colorectal cancer

Molecular Oncology, EarlyView.
Ixazomib inhibits proteasome‐mediated degradation of topoisomerase I induced by irinotecan, thereby restoring drug sensitivity and promoting tumor cell death in colorectal cancer. Irinotecan, a topoisomerase I (topoI) inhibitor, is widely used for colorectal cancer, but resistance remains a major clinical challenge.
Yuho Ebata, Koji Ando, Hirofumi Hasuda, Koshi Mimori, Elizabeth C. Unan, Siddhartha Pulukuri, Aahana Tiku, Allison Berger, Eiji Oki, Ajit Bharti, Tomoharu Yoshizumi   +10 more
wiley   +1 more source

What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis. [PDF]

Eur J Hum Genet
Lambert DM, Stewart H, Bandiola M, Bertoli M, Butterly D, Kuismin O, Moilanen J, Rea G, Streata I, Griffin A, McGrath V, Behan D, Coen N, King S, Kilroe E, Ward AJ, Lynch SA.   +16 more
europepmc   +1 more source

Metastasis on pause: How dormant tumor cells stay hidden within the tumor microenvironment and evade immune surveillance

Molecular Oncology, EarlyView.
Dormant cancer cells can hide in distant organs for years, evading treatment and the immune system. This review highlights how signals from the surrounding tissue and immune environment keep these cells inactive or trigger their reawakening. Understanding these mechanisms may help develop therapies to eliminate or control dormant cells and prevent ...
Kanishka Tiwary, Jose Javier Bravo‐Cordero   +1 more
wiley   +1 more source

Leveraging PCORnet® to Advance Clinical Genetics and the Genomic Learning Health System. [PDF]

Med Care
Rothman RL, Peterson J, Kripalani S, Barrett JB, Bastarache L, Lenert L, Taylor B, Carnahan R, Waitman LR.   +8 more
europepmc   +1 more source

Predicting Atrial Fibrillation after Ischemic Stroke: Clinical, Genetics, and Electrocardiogram Modelling. [PDF]

Cerebrovasc Dis Extra, 2023
Poh MQW, Tham CH, Chee JDMS, Saffari SE, Tan KWK, Tan LW, Ng EY, Yeo CPX, Seet CYH, Xie JP, Lai JY, Singh R, Tan EK, Tu TM.   +13 more
europepmc   +1 more source

Clinical Genetics: A Review

Journal of the Royal College of Physicians of London, 1988
openaire   +2 more sources