Results 121 to 130 of about 1,715,615 (239)

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening

open access: yesTranslational Oncology
Germline loss-of-function mutations in BRCA1 and BRCA2 (BRCA) genes are well-established as causative factors for hereditary breast and ovarian cancer (HBOC), conferring an approximately tenfold increased lifetime risk.
Qianqian Shi   +12 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

BRCA2 signature genes.

open access: yes, 2013
Footnote. t: moderated t-statistic for 66 genes that best discriminate between BRCA2 and BRCAX tumors. p: p-value after Benjamini Hochberg correction (all genes had an unadjusted p-value
Françoise Bonnet (292500)   +13 more
core   +1 more source

CCNE1: A Cell Cycle Regulator That Influences Tumor Progression

open access: yesCancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACTCyclin E1 (CCNE1), a pivotal member of the cyclin family, governs the G1/S phase transition of the cell cycle by binding to and activating cyclin‐dependent kinase 2 (CDK2), thereby initiating DNA replication and driving S‐phase entry. In a broad spectrum of human malignancies—including breast, ovarian, gastric, and non‐small cell lung cancers ...
Liang Yan   +6 more
wiley   +1 more source

Mapping Mutations and Signaling Network Interactions to Guide Precision Therapy in Gallbladder Cancer

open access: yesCancer Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Gallbladder cancer (GBC) is a biologically complex malignancy arising from the epithelial lining of the gallbladder, with adenocarcinoma constituting the major histological subtype. Early detection is challenging because of vague clinical manifestations and the organ's deep‐seated anatomical location, resulting in diagnosis at ...
Nisha Manav   +4 more
wiley   +1 more source

Tumor Infiltrating Lymphocyte Therapy Combined With PD‐1/LAG‐3 Inhibition in Patients With Recurrent Platinum‐Resistant Ovarian Cancer

open access: yesInternational Journal of Cancer, Volume 159, Issue 7, Page 1735-1749, 1 October 2026.
The detection of tumor‐infiltrating lymphocytes (TILs) is a positive prognostic factor in ovarian cancer. Moreover, TILs are significantly boosted by immunotherapy, though ovarian cancer patients have seen limited benefit from immune therapies. This study investigated the safety and feasibility of TIL therapy combined with PD‐1 and LAG‐3 inhibitors in ...
Tine J. Monberg   +9 more
wiley   +1 more source

Population testing for cancer predisposing BRCA1/BRCA2 mutations [PDF]

open access: yes, 2014
Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages.
Wardle, J
core  

Prevalence of Helicobacter pylori Exposure and Risk Factors Among BRCA1 and BRCA2 Carriers

open access: yesInternational Journal of Cancer, Volume 159, Issue 7, Page 1663-1668, 1 October 2026.
BRCA1 and BRCA2 pathogenic germline variant (PGV) carriers may be at increased risk of gastric cancer (GC), especially in the case of prior or active Helicobacter pylori (Hp) infection. The extent to which Hp influences BRCA1 and BRCA2‐associated GC remains uncertain. Here, the authors evaluated plasma samples from a U.S. cohort of BRCA1, BRCA2, PALB2,
Kole H. Buckley   +12 more
wiley   +1 more source

BRCA1 and BRCA2mutations in breast cancer patients from Venezuela

open access: yesBiological Research, 2012
A sample of 58 familial breast cancer patients from Venezuela were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIM no. 113705) and BRCA2 (MIM no.
Karlena Lara   +3 more
doaj  

Automatic Conversion of NICE Guidelines to an Executable Computational Model Using Large Language Models

open access: yesLearning Health Systems, Volume 10, Issue 4, October 2026.
ABSTRACT Introduction The UK National Institute for Health and Care Excellence (NICE) produce guidelines that provide evidence‐based recommendations to support clinical care across England and Wales, but remain available in unstructured natural language form.
Ashvin Gupta   +3 more
wiley   +1 more source

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