Results 91 to 100 of about 72,678 (220)
ABSTRACT Purpose Germline genetic testing in patients with advanced prostate cancer (PCa) is underutilized and hypothesized to be impacted by socioeconomic and demographic factors. This single institution, retrospective study assessed the association of income and social vulnerability with genetic referrals and testing.
Alexandra T. Skowron +8 more
wiley +1 more source
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.
Aalfs, Cora M +99 more
core
Abstract Background Approximately 10%–15% of patients with pancreatic ductal adenocarcinoma (PDAC) harbor pathogenic germline genetic alterations with direct therapeutic and hereditary cancer implications, leading to guideline recommendations for universal germline genetic testing regardless of family history.
Udhayvir S. Grewal +11 more
wiley +1 more source
Tumor mutational burden as a determinant of metastatic dissemination patterns
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal +4 more
wiley +1 more source
This study identifies mutation‐intolerant genes (MIGs), which are mutationally constrained in tumors despite normal‐tissue variability. Using miDriver, the authors pinpoint MIGs essential for tumor‐intrinsic fitness and immune evasion. Focusing on CHEK1, they show it drives tumor fitness and sculpts an immunosuppressive niche via the MIF–CD74 axis ...
Tao Wang +16 more
wiley +1 more source
ABSTRACT Mantle cell lymphoma (MCL) is a B‐cell malignancy with a chronically relapsing clinical course and pronounced genetic heterogeneity. To investigate the clonal dynamics underlying early disease relapse, we performed single‐cell RNA sequencing of paired tumor samples collected at diagnosis and at first relapse. Inference of copy number variants (
Dmitry Manakov +14 more
wiley +1 more source
ABSTRACT Background Medulloblastoma (MB) is a heterogeneous pediatric brain tumor characterized by distinct molecular subtypes. Although genomics and transcriptomics have improved subtype classification and informed targeted therapies, the clinical utility of integrated molecular profiling in real‐world settings remains incompletely defined. Methods We
Jiwei Song +4 more
wiley +1 more source
BRCA2: a grown-up cancer susceptibility gene [PDF]
William D, Foulkes, Kokichi, Sugano
openaire +2 more sources
ABSTRACT Objective Hereditary cancer risk assessment has predominantly focused on HER2‐negative breast cancer (BC), with limited characterization of germline pathogenic variants (GPVs) in HER2‐positive disease. This study aimed to delineate the prevalence, clinicopathological correlates, and clinical implications of GPVs in a cohort of HER2‐positive BC
Lijia Zhou +20 more
wiley +1 more source
Advanced Gastric Cancer Presenting as a Giant Subepithelial Lesion: A Case Report
A giant subepithelial lesion. ABSTRACT Gastric cancer may occasionally present with a subepithelial lesion‐like appearance. When a gastric gastrointestinal stromal tumor (GIST) is suspected preoperatively without definitive pathological confirmation, intraoperative frozen section analysis is recommended to prevent inappropriate surgical intervention.
Ji Sun +6 more
wiley +1 more source

