Associated Papers
Implementing a Genetic Counselor-Led Model for Hereditary Myeloid Malignancies: A Real-World Study.
VanDerGraaf M et al.
Cancer Medicine, 2025
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 2025
An Analytical Approach that Combines Knowledge from Germline and Somatic Mutations Enhances Tumor Genomic Reanalyses in Precision Oncology.
DeVoe E et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.
Murphy AJ et al.
Nature Communications, 2023
The Role of Germline Mutations in Thoracic Malignancies: Between Myth and Reality.
Farinea G et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2023
The Genetic and Epigenetic Features of Bilateral Wilms Tumor Predisposition: A Report from the Children's Oncology Group AREN18B5-Q Study.
Murphy AJ et al.
Research Square, 2023
Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.
Lieb V et al.
Cells, 2022
Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.
Crouch S et al.
Blood Advances, 2022
Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
Infante M et al.
International Journal of Molecular Sciences, 2022
Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
Mondschein R et al.
Cancers, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
Lieb V et al.
Cells, 2021
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.
Yoshida R et al.
Cancer Science, 2021
Advanced adenomas may be a red flag for hereditary cancer syndromes.
Patel SG et al.
Hereditary Cancer in Clinical Practice, 2021
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 2021
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
Bononi A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.
Raskin L et al.
Oncotarget, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway.
Lovejoy CA et al.
Plos Genetics, 2012