Results 241 to 250 of about 714,661 (305)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A unique case of late-onset CIPO caused by a missense mutation in the long isoform of <i>FLNA</i>. [PDF]

Front Genet
D'Amato I, Ganguzza E, Basilisco G, Strippoli A, Salvi E, Mehmeti E, Chiappori F, Devigili G, Vecchi M, Lauria G, Marchi M.   +10 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease. [PDF]

Sci Signal
Gauron MC, Prokopenko D, Lee S, Wolfe SA, Hecker J, Willett J, Waqas M, Lordén G, Yang Y, Mayfield JE, Castanho I, Mullin K, Morgan S, Hahn G, Demeo DL, Hide W, Bertram L, Lange C, Newton AC, Tanzi RE.   +19 more
europepmc   +1 more source

Global Real‐World Outcomes of Olaparib in Metastatic Castration‐Resistant Prostate Cancer Patients With Homologous Recombination Repair Alterations

International Journal of Cancer, EarlyView.
ABSTRACT Evidence to guide the treatment for patients with metastatic castration‐resistant prostate cancer (mCRPC) and Homologous Recombination Repair (HRR) gene alterations outside of clinical trials remains limited. This was an observational, cohort study, including mCRPC patients with tumor harboring HRR alterations, progressed on a prior androgen ...
Lorena Incorvaia, Daniele Santini, Marc R. Matrana, Marco Maruzzo, Ray Manneh Kopp, Lorenzo Antonuzzo, Sergio Bracarda, Deniz Tural, Giuseppe Procopio, Maria T. Bourlon, Orazio Caffo, Martin Ignacio Zapata Laguado, Massimo Di Maio, Brigida Anna Maiorano, Vincenza Conteduca, Sabrina Rossetti, Helga Lipari, Thomas Büttner, Mimma Rizzo, Yüksel Ürün, Carlo Messina, Fernando Sabino Marques Monteiro, Andrey Soares, Mattia Puglisi, Alice Principi, Eleonora Lai, Giulia Mammone, Marco Stellato, Ilaria Depetris, Tancredi Didier Bazan Russo, Isadora Yasbick Spricido, Camila Bobato Lara Gismondi, Francesco Massari, Nicola Pavan, Matteo Santoni, Tarek Taha   +35 more
wiley   +1 more source

Spontaneous ovarian hyperstimulation in a nonpregnant woman with PCOS: a rare case highlighting FMN2 missense mutation and androgen receptor gene deletion. [PDF]

J Ovarian Res
Ota K, Takahashi T, Nitta E, Watanabe K, Isayama K, Morimoto Y, Tsuji K, Matsuyama Y, Matsuyama T, Ota Y, Kanenishi K, Mizukami Y, Shimoya K.   +12 more
europepmc   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families. [PDF]

Ann Hematol
Amri Y, Fredj SH, Dabboubi R, Othmani R, Sahli C, Baccouche I, Ouali F, Messaoud T.   +7 more
europepmc   +1 more source

Analysis of Notch1 and Notch3 Signaling Pathway Components in Benign Prostatic Hyperplasia and Prostate Cancer Patients

Journal of Clinical Laboratory Analysis, EarlyView.
This study evaluates the association between Notch1 and Notch3 genetic variations and serum protein levels in patients with benign prostatic hyperplasia and prostate cancer. While genetic variations showed no significant link to disease risk, serum protein levels were significantly lower in prostate cancer and metastatic groups compared to healthy ...
Emine Yagci, Cansu Ozbayer, Ata Ozen, Gamze Zengin, Hulyam Kurt   +4 more
wiley   +1 more source

Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene. [PDF]

Endocrinol Diabetes Metab Case Rep
Fujii A, Nakabayashi H, Nagao Y, Akiyama M, Taguchi A, Yorimoto K, Hamada R, Saeki I, Yamamoto N, Takami T, Watanabe K, Mizukami Y, Ohta Y.   +12 more
europepmc   +1 more source