Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
Evolution of AR and non-AR alterations in circulating tumor DNA of metastatic prostate cancer patients treated in the phase 3 Alliance A031201 trial.
Valentín López JC et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026
Molecular Mosaics: Unveiling Heterogeneity in Synchronous Colorectal Cancers.
Lee HG et al.
Cancer Research and Treatment, 2026
PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function.
Shao L et al.
Cancer Cell International, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
AR alterations inform circulating tumor DNA detection in metastatic castration resistant prostate cancer patients.
Knutson TP et al.
Nature Communications, 2024
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.
Abdelmaksoud-Dammak R et al.
Familial Cancer, 2024
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Rayner E et al.
Human Mutation, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.
Hu D et al.
Cancer Science, 2022
MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.
Zhang XW et al.
World Journal of Clinical Cases, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report.
Tan S et al.
Bmc Medical Genomics, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 2020
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
da Costa E Silva Carvalho S et al.
Bmc Medical Genomics, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
RSPO2 gene rearrangement: a powerful driver of β-catenin activation in liver tumours.
Longerich T et al.
Gut, 2019
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Buckingham L et al.
Hereditary Cancer in Clinical Practice, 2019
Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer.
Liccardo R et al.
Cancer Management and Research, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer.
Lajus TB et al.
Gene, 2015
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
van der Klift HM et al.
Molecular Genetics & Genomic Medicine, 2015
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Feasibility of low-throughput next generation sequencing for germline DNA screening.
Sapari NS et al.
Clinical Chemistry, 2014
High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.
Brea-Fernández AJ et al.
Clinical Genetics, 2014
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
Hansen MF et al.
Molecular Genetics & Genomic Medicine, 2014
Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients.
Zahary MN et al.
International Journal of Colorectal Disease, 2014
Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.
Wang Z et al.
Cancer Letters, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Jejunal Cancer with WRN Mutation Identified from Next-Generation Sequencing: A Case Study and Minireview.
Chang C et al.
Case Reports in Surgery, 2014
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Drost M et al.
Human Mutation, 2013
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
Borràs E et al.
Journal of Medical Genetics, 2013
Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.
Clendenning M et al.
Clinical Genetics, 2013