When the somatic genome informs the germline: the example of TP53.

J Natl Cancer Inst

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

Published: August 2024

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11308161PMC
http://dx.doi.org/10.1093/jnci/djae126DOI Listing

Publication Analysis

Top Keywords

somatic genome
4
genome informs
4
informs germline
4
germline example
4
example tp53
4
somatic
1
informs
1
germline
1
example
1
tp53
1

Similar Publications

Evaluating the effectiveness of cancer treatments in relation to specific tumor mutations is essential for improving patient outcomes and advancing the field of precision medicine. Here we represent a comprehensive analysis of 78,287 U.S.

View Article and Find Full Text PDF

Precise identification of somatic and germline variants in the absence of matched normal samples.

Brief Bioinform

November 2024

The Department of Medical Oncology, Jilin Cancer Hospital, No. 1066, Jinhu Road, Changchun, 130012, China.

Somatic variants play a crucial role in the occurrence and progression of cancer. However, in the absence of matched normal controls, distinguishing between germline and somatic variants becomes challenging in tumor samples. The existing tumor-only genomic analysis methods either suffer from limited performance or insufficient interpretability due to an excess of features.

View Article and Find Full Text PDF

Introduction: The spatially complex nature of mesothelioma and interventions like pleurodesis, surgery, and radiation often complicate imaging-based assessment. Further, cell-free DNA (cfDNA) based monitoring strategies are inadequate for mesothelioma, given the presence of a few recurring nonsynonymous somatic variants. However, patient-specific chromosomal rearrangements are commonly found in mesothelioma.

View Article and Find Full Text PDF

Biomarker potential of plasma cell-free DNA for cholangiocarcinoma.

Heliyon

December 2024

Research Group in Multidimensional Health and Disease (MHD), Chulabhorn International College of Medicine, Thammasat University, Pathum Thani, 12120, Thailand.

Background: To prevent the development of cholangiocarcinoma, an effective screening opisthorchiasis viverrini and/or differential diagnosis of and the cholangiocarcinoma is crucial needed. The level and quality of cfDNA in plasma are being investigated for their potential role as biomarkers in cholangiocarcinoma.

Methods: The study enrolled 43 healthy controls (N), 36 -infected subjects (OV), and 36 cholangiocarcinoma patients (CCA).

View Article and Find Full Text PDF

Background: Studies have shown that tumor cell amino acid metabolism is closely associated with lung adenocarcinoma (LUAD) development and progression. However, the comprehensive multi-omics features and clinical impact of the expression of genes associated with amino acid metabolism in the LUAD tumor microenvironment (TME) are yet to be fully understood.

Methods: LUAD patients from The Cancer Genome Atlas (TCGA) database were enrolled in the training cohort.

View Article and Find Full Text PDF

Want 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!