Results 71 to 80 of about 1,861,621 (385)

Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer

open access: yesInternational Journal of Genomics, 2020
Background. Breast cancer development and progression involve both germline and somatic mutations. High-throughput genotyping and next-generation sequencing technologies have enabled discovery of genetic risk variants and acquired somatic mutations ...
Jiande Wu   +3 more
doaj   +1 more source

Aging and the rise of somatic cancer-associated mutations in normal tissues. [PDF]

open access: yesPLoS Genetics, 2018
DNA mutations are inevitable. Despite proficient DNA repair mechanisms, somatic cells accumulate mutations during development and aging, generating cells with different genotypes within the same individual, a phenomenon known as somatic mosaicism.
Rosa Ana Risques, Scott R Kennedy
doaj   +1 more source

Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data

open access: yesFrontiers in Aging, 2022
Somatic mutations are DNA variants that occur after the fertilization of zygotes and accumulate during the developmental and aging processes in the human lifespan.
August Yue Huang, Eunjung Alice Lee
doaj   +1 more source

Germline and Somatic DNA Damage Repair Gene Mutations and Overall Survival in Metastatic Pancreatic Adenocarcinoma Patients Treated with FOLFIRINOX [PDF]

open access: yes, 2018
Purpose: Pancreatic ductal adenocarcinoma (PDAC) is a lethal cancer with lack of predictive biomarkers. We conducted a study to assess DNA damage repair (DDR) gene mutations as a predictive biomarker in PDAC patients treated with FOLFIRINOX ...
Gbolahan, Olumide   +8 more
core   +1 more source

Single-cell whole-genome sequencing reveals the functional landscape of somatic mutations in B lymphocytes across the human lifespan

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2019
Significance Spontaneous accumulation of somatic DNA mutations has been hypothesized as a cause of both cancer and aging. However, detecting mutations in normal, noncancer cells is challenging, because mutations accumulate independently in each cell ...
Lei Zhang   +5 more
semanticscholar   +1 more source

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer

open access: yesProstate Cancer, 2019
Prostate cancer (PCa) is the most common diagnosed malignancy and the second leading cause of cancer-related deaths among men in the USA. Advances in high-throughput genotyping and next generation sequencing technologies have enabled discovery of ...
Tarun Karthik Kumar Mamidi   +2 more
doaj   +1 more source

Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency

open access: yesBlood Advances, 2017
: Approximately 10% of children with primary myelodysplastic syndrome (MDS) have germ line GATA2 mutations, leading to the proposal that all children with primary MDS and certain cytogenetic findings, including monosomy 7, be tested for germ line GATA2 ...
Kevin E. Fisher   +8 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

open access: yesFEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho   +3 more
wiley   +1 more source

Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation

open access: yesNature Communications, 2019
The role of brain somatic mutations in Alzheimer’s disease (AD) is not well understood. Here, we perform deep whole-exome sequencing (average read depth 584×) in 111 postmortem hippocampal formation and matched blood samples from 52 patients with AD and ...
Jun Sung Park   +11 more
semanticscholar   +1 more source

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