Associated Papers
Comprehensive genomic profiling of Taiwanese triple-negative breast cancer samples with medium- and large-sized sequencing panels: A comparative study implicating treatment allocations.
Huang CC et al.
Biomedical Reports, 2025
Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.
Börcsök J et al.
The Journal of Clinical Investigation, 2025
ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.
Thorvaldsdottir B et al.
Leukemia, 2025
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
Genomic Features of Newly Diagnosed Large B-cell Lymphoma with or without Subsequent Disease Progression.
Landsburg DJ et al.
Cancer Research Communications, 2024
Whole Mitochondrial Genome Sequencing Analysis of Canine Testicular Tumours.
Tkaczyk-Wlizło A et al.
International Journal of Molecular Sciences, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site.
Rein HL et al.
Dna Repair, 2024
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.
Andreotti V et al.
Genes, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre.
Butz H et al.
Scientific Reports, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
The Genomic Landscape of Lobular Breast Cancer.
McCart Reed AE et al.
Cancers, 2021
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Identification of relevant genetic alterations in cancer using topological data analysis.
Rabadán R et al.
Nature Communications, 2020
p53-responsive TLR8 SNP enhances human innate immune response to respiratory syncytial virus.
Menendez D et al.
The Journal of Clinical Investigation, 2019
Mutational processes shape the landscape of TP53 mutations in human cancer.
Giacomelli AO et al.
Nature Genetics, 2018
Elucidating therapeutic molecular targets in premenopausal Asian women with recurrent breast cancers.
Yap YS et al.
Npj Breast Cancer, 2018
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
Jara L et al.
Biological Research, 2017
Genomic Profiling of Patient-Derived Xenografts for Lung Cancer Identifies B2M Inactivation Impairing Immunorecognition.
Pereira C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
Mutation spectrum of TP53 gene predicts clinicopathological features and survival of gastric cancer.
Tahara T et al.
Oncotarget, 2016
Analysis of FOXO1 mutations in diffuse large B-cell lymphoma.
Trinh DL et al.
Blood, 2013
Molecular characterization of TP53 gene in human populations exposed to low-dose ionizing radiation.
Brasil-Costa I et al.
Biomed Research International, 2013