Results 161 to 170 of about 116,502 (262)

Bipolar Androgen Therapy as a Potential Mechanistic Bridge to Enhance PARP Inhibitor Efficacy in Prostate Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Prostate cancer remains a leading cause of cancer‐related mortality, largely driven by progression to metastatic castration‐resistant prostate cancer (mCRPC). Although poly(ADP‐ribose) polymerase inhibitors (PARPis) have improved outcomes in patients with homologous recombination repair (HRR) alterations, particularly in BRCA2‐mutated disease,
Jhen‐Hao Jhan, Jiun‐Hung Geng, Hung‐Lung Ke, Shu‐Pin Huang, Li Jia   +4 more
wiley   +1 more source

Characteristics and Clinical Outcomes of BRCA Germline Mutation Carriers with Advanced Breast Cancer Treated with PARP (Poly ADP-Ribose Polymerase) Inhibitors: A Single-Institution Experience. [PDF]

Cancers (Basel)
Akkoc Mustafayev FN, Fountzilas E, Munsell MF, Layman RM, Yam C, Gutierrez AM, Albarracin CT, Ahmed Z, Schlacher K, Tainer JA, Arun BK.   +10 more
europepmc   +1 more source

MEK Inhibitor Associated Airway Injury in an Infant With Noonan Syndrome: A Case Report

The Laryngoscope, EarlyView.
An infant with Noonan syndrome treated with trametinib developed extensive mucosal sloughing of the upper and lower airway, followed by severe supraglottic scarring. Clinicians should consider airway toxicity as a potential adverse effect of MEK inhibitor therapy.
Veronica Drozdowski‐Nuccio, Rachel D. Yoon, Steven Tomasi, Dana M. Thompson, Inbal Hazkani   +4 more
wiley   +1 more source

Germline mutation profiling of breast cancer patients using a non-BRCA sequencing panel. [PDF]

Front Bioinform
Panigoro SS, Paramita RI, Fadilah F, Wanandi SI, Prawiningrum AF, Erlina L, Utari WD, Fajrin AM.   +7 more
europepmc   +1 more source

Population size interacts with reproductive longevity to shape the germline mutation rate. [PDF]

Proc Natl Acad Sci U S A
Zhu L, Beichman A, Harris K.
europepmc   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Cadherin 1 germline mutation co-occurs with medullary thyroid cancer and choroid plexus papilloma: A case report and review of literature. [PDF]

Surg Neurol Int
Nitturi V, Gopakumar S, Lu HC, Patel AJ.
europepmc   +1 more source

The FGF/FGFR System in the Biology and Therapeutic Landscape of Pediatric CNS Tumors

Medicinal Research Reviews, EarlyView.
ABSTRACT Central nervous system (CNS) tumors are the most common solid malignancies in children, comprising a highly heterogeneous group of neoplasms defined by distinct molecular alterations and clinical behaviors. Advances in molecular genetics have underscored the relevance of specific signaling pathways in driving pediatric tumorigenesis, among ...
Serena Filiberti, Camilla Tavani, Elena Somenza, Nicolas Tassone, Antonio d'Amati, Marta Turati, Roberto Ronca   +6 more
wiley   +1 more source

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature. [PDF]

Front Endocrinol (Lausanne)
Qi XP, Weng YT, Chen ZY, Zhang MX, Yang XL, Cao ZL, Zhang XX, Zhu WB, Yu HY, Chen WY, Chen JY, Li FP.   +11 more
europepmc   +1 more source

SHP2 in Cancer: From Tumor Biology to Therapeutic Targeting

Medicinal Research Reviews, EarlyView.
ABSTRACT SHP2 is a tyrosine phosphatase that mediates intracellular signaling downstream of transmembrane receptors regulated by a pair of src homology 2 (SH2) domains. Its overexpression and mutation are pivotal in driving tumor progression by influencing various cancer's fundamental characteristics, such as metastasis, DNA repair, angiogenesis ...
Maryam Jama, Michael Overduin, Khaled H. Barakat   +2 more
wiley   +1 more source