Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Molecular Landscape, Genomic Shift, and Prediction in the Neoadjuvant Setting of Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer.
Pons L et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.
Thorvaldsdottir B et al.
Leukemia, 2025
Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.
Wasson JL et al.
Familial Cancer, 2025
Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.
Chow RD et al.
Blood Advances, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.
Chow RD et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.
Zakaria NH et al.
Human Genomics, 2023
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson BL et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson Q et al.
European Urology Oncology, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.
Kim YS et al.
Bmc Urology, 2018
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J et al.
American Journal of Human Genetics, 2018
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.
Lee JY et al.
Translational Oncology, 2018
Favorable impact of allogeneic stem cell transplantation in patients with therapy-related myelodysplasia regardless of TP53 mutational status.
Aldoss I et al.
Haematologica, 2017
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Lee JY et al.
Oncotarget, 2015
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Park K et al.
Oncotarget, 2015
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015