Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
Low Yield of Genetic Testing in Serrated Polyposis Syndrome.
Upadhye I et al.
Clinical and Translational Gastroenterology, 2025
Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J et al.
Human Genetics, 2025
A novel patient-derived cutaneous melanoma cell line reveals key features of metastatic melanoma.
Tomás A et al.
Frontiers in Oncology, 2025
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Miyashita M et al.
Breast Cancer Research : Bcr, 2023
Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.
Yildiz S et al.
Frontiers in Oncology, 2023
PD-1 Blockade in Solid Tumors with Defects in Polymerase Epsilon.
Rousseau B et al.
Cancer Discovery, 2022
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Clinical and Molecular Characterization of POLE Mutations as Predictive Biomarkers of Response to Immune Checkpoint Inhibitors in Advanced Cancers.
Garmezy B et al.
Jco Precision Oncology, 2022
Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand.
Henry CE et al.
Cancers, 2021
POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.
Chen YX et al.
Clinical and Translational Medicine, 2021
Endometrial cancer with a POLE mutation progresses frequently through the type I pathway despite its high-grade endometrioid morphology: a cohort study at a single institution in Japan.
Monsur M et al.
Medical Molecular Morphology, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.
Galati MA et al.
Cancer Research, 2020
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan DD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Comprehensive Analysis of Hypermutation in Human Cancer.
Campbell BB et al.
Cell, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Response to PD-1 Blockade in Microsatellite Stable Metastatic Colorectal Cancer Harboring a POLE Mutation.
Gong J et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2017
POLE mutations in families predisposed to cutaneous melanoma.
Aoude LG et al.
Familial Cancer, 2015
International society for gastrointestinal hereditary tumours-InSiGHT.
Unknown Author
Familial Cancer, 2015
POLE exonuclease domain mutation predicts long progression-free survival in grade 3 endometrioid carcinoma of the endometrium.
Meng B et al.
Gynecologic Oncology, 2014
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
Church DN et al.
Human Molecular Genetics, 2013