Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1200/JCO.2011.41.5562 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Frequency of somatic and germline variants of predisposition genes in young Chinese women with breast cancer.
Breast Cancer Res Treat
January 2025
Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian , China.
Purpose: Age stratification influences the clinicopathological features and survival outcomes of breast cancer. We aimed to understand the effect of age on gene variants in young Chinese women with breast cancer compared with those from The Cancer Genome Atlas (TCGA).
Methods: Enrolled patients ≤ 40 years old (N = 370) underwent germline or somatic genetic testing using a 32-gene hereditary cancer panel at Fujian Union Hospital.
The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene.
Calcif Tissue Int
January 2025
Department of Endocrinology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Hyperparathyroidism-jaw tumor syndrome is a rare form of syndromic primary hyperparathyroidism. We describe a young female with a history of common precursor B acute lymphoblastic leukaemia who was diagnosed with overt primary hyperparathyroidism due to a pathogenic CDC73 variant (c.25C > T).
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Background: Fundamental questions remain about the key mechanisms that initiate Alzheimer's disease (AD) and the factors that promote its progression. Here we report the successful generation of the first genetically-engineered marmosets that carry knock-in (KI) point mutations in the presenilin-1 (PSEN1) gene that can be studied from birth throughout lifespan.
Method: CRISPR/Cas9 was used to generate marmosets with C410Y or A426P point mutations in PSEN1.
Feasibility of a cancer screening program using multicancer early detection testing and whole-body magnetic resonance imaging in a high-risk population.
Cancer
January 2025
Division of Clinical Cancer Genomics, Department of Medical Oncology, City of Hope National Medical Center, Duarte, California, USA.
Background: The authors assessed the feasibility, acceptability, and impact on cancer worry of a cancer screening program using multicancer early detection (MCED) tests and whole-body magnetic resonance imaging (WBM) in individuals at high cancer risk because of family history or germline variants in cancer-susceptibility genes.
Methods: This prospective trial enrolled participants aged 50 years and older who had a significant family history of cancer or a cancer-susceptibility gene variant. Participants underwent noncontrast WBM and MCED testing.
Bayesian analysis of the rate of spontaneous malignant mesothelioma among BAP1 mutant mice in the absence of asbestos exposure.
Sci Rep
January 2025
ArrayXpress, Inc., Raleigh, NC, USA.
Cancers of the mesothelium, such as malignant mesothelioma (MM), historically have been attributed solely to exposure to asbestos. Recent large scale genetic and genomic functional studies now show that approximately 20% of all human mesotheliomas are causally linked to highly penetrant inherited (germline) pathogenic mutations in numerous cancer related genes. The rarity of these mutations in humans makes it difficult to perform statistically conclusive genetic studies to understand their biological effects.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!