Results 71 to 80 of about 7,424,997 (207)

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder

open access: yesSignal Transduction and Targeted Therapy, 2021
Neuroendocrine carcinoma (NEC) of the gallbladder (GB-NEC) is a rare but extremely malignant subtype of gallbladder cancer (GBC). The genetic and molecular signatures of GB-NEC are poorly understood; thus, molecular targeting is currently unavailable. In
Fatao Liu   +16 more
doaj   +1 more source

DNA Extracted From Aged Formalin‐Fixed Paraffin‐Embedded Specimens of Patients With Papillary Thyroid Carcinomas Can Be Used for Whole Exome Sequencing

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
We aimed to assess the quality of DNA extracted from long‐term stored FFPE specimens of patients with papillary thyroid carcinoma from three hospitals in Hiroshima and their applicability to whole exome sequencing. FFPE samples preserved for up to 55 years may be amenable to sequencing with increased read depth.
Kousuke Tanimoto   +15 more
wiley   +1 more source

Comprehensive genomic characterization of cutaneous malignant melanoma cell lines derived from metastatic lesions by whole-exome sequencing and SNP array profiling. [PDF]

open access: yesPLoS ONE, 2013
Cutaneous malignant melanoma is the most fatal skin cancer and although improved comprehension of its pathogenic pathways allowed to realize some effective molecular targeted therapies, novel targets and drugs are still needed.
Ingrid Cifola   +7 more
doaj   +1 more source

Contemporary Treatment Patterns in Surgically Treated Temporal Bone Cancer

open access: yesThe Laryngoscope, EarlyView.
In a national cohort of 811 surgically treated temporal bone cancer patients, adjuvant radiation therapy was the most frequently utilized postoperative treatment (20.3%), while chemotherapy and immunotherapy were used far less frequently. Multimodal treatment, particularly combined parotidectomy and neck dissection, was strongly associated with higher ...
Raquel Rowell   +4 more
wiley   +1 more source

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

open access: yesThe Journal of Pathology, EarlyView.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti   +21 more
wiley   +1 more source

Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium.

open access: yes, 2007
Association studies in large series of breast cancer patients can be used to identify single-nucleotide polymorphisms (SNP) contributing to breast cancer susceptibility.
Pharoah, Paul DP   +22 more
core   +1 more source

Genetic Evolution in BRCA1‐Associated Breast Cancer Reveals Early Driver Mutations Shaping Tumor Features and Prognosis

open access: yesCancer Science, EarlyView.
Multi‐region sequencing of 57 BRCA1‐associated breast cancers identified TP53 as the dominant initial driver, defining a triple‐negative subgroup with biallelic BRCA1 loss and elevated genomic instability. TP53 truncating mutations were enriched in BRCA1 carriers and linked to reduced HRD, EMT activation, and a trend toward worse survival.
Li Hu   +13 more
wiley   +1 more source

Evidence That the Protein Phosphatase Activity of PTEN Contributes to Embryonic Development and Tumor Suppression

open access: yesCancer Science, EarlyView.
Mice expressing only mutant PTEN Y138L, a protein which shows normal suppression of cellular AKT yet lacks protein phosphatase activity, die in utero, and heterozygous mice display a range of tumors. This indicates both the lipid and protein phosphatase activities of PTEN work together for normal tumor suppression and embryonic development.
Priyanka Tibarewal   +16 more
wiley   +1 more source

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines

open access: yesGenome Medicine, 2017
Background Onco-proteogenomics aims to understand how changes in a cancer’s genome influences its proteome. One challenge in integrating these molecular data is the identification of aberrant protein products from mass-spectrometry (MS) datasets, as ...
Javier A. Alfaro   +5 more
doaj   +1 more source

Elucidating PI3K/AKT/PTEN Pathway Alterations at Single‐Cell Level in CTCs From HR+/HER2− Metastatic Breast Cancer

open access: yesCancer Science, EarlyView.
Single CTC analysis revealed extensive inter‐ and intra‐patient heterogeneity of PI3K/AKT/PTEN pathway alterations in HR+/HER2− metastatic breast cancer, capturing both SNVs and CNAs, including PTEN loss‐of‐function events. Longitudinal CTC profiling also uncovered dynamic clonal evolution, highlighting its potential to complement tissue and ctDNA ...
Tania Rossi   +10 more
wiley   +1 more source

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