Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers.
Ward JC et al.
Genome Medicine, 2025
Complete response to pembrolizumab in mismatch repair-deficient urothelial carcinoma with local recurrence and recurrent upper tract urothelial carcinoma: a case report.
Shiraishi K et al.
International Cancer Conference Journal, 2025
Preferential Genetic Pathways Lead to Relapses in Adult B-Cell Acute Lymphoblastic Leukemia.
Navas-Acosta J et al.
Cancers, 2024
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.
Takemon Y et al.
Genome Medicine, 2024
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
The Evolution of Clinically Aggressive Triple-Negative Breast Cancer Shows a Large Mutational Diversity and Early Metastasis to Lymph Nodes.
Martínez-Gregorio H et al.
Cancers, 2021
Clinical and genomic characterisation of mismatch repair deficient pancreatic adenocarcinoma.
Grant RC et al.
Gut, 2021
Determinants of Response and Intrinsic Resistance to PD-1 Blockade in Microsatellite Instability-High Gastric Cancer.
Kwon M et al.
Cancer Discovery, 2021
Chemotherapy and mismatch repair deficiency cooperate to fuel TP53 mutagenesis and ALL relapse.
Yang F et al.
Nature Cancer, 2021
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
He C et al.
Nature Communications, 2021
High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.
Kim JE et al.
Experimental & Molecular Medicine, 2021
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
Soares de Lima Y et al.
Cancers, 2021
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.
Lin PH et al.
Cancer Science, 2020
Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.
von Loga K et al.
Nature Communications, 2020
Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.
Sugino K et al.
Scientific Reports, 2019
Bridging genomics and phenomics of gastric carcinoma.
Cho J et al.
International Journal of Cancer, 2019
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.
Oliver J et al.
Frontiers in Oncology, 2019
Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma.
Gopal RK et al.
Cancer Cell, 2018
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.
Ma X et al.
Nature, 2018
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2018
Exomic variants of an elderly cohort of Brazilians in the ABraOM database.
Naslavsky MS et al.
Human Mutation, 2017
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.
Kohda M et al.
Familial Cancer, 2016
Functional characterization of somatic mutations in cancer using network-based inference of protein activity.
Alvarez MJ et al.
Nature Genetics, 2016
Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
Jean S et al.
Oncotarget, 2016
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.
Yu Y et al.
Scientific Reports, 2015
Genome-wide mutation profiles of colorectal tumors and associated liver metastases at the exome and transcriptome levels.
Lim B et al.
Oncotarget, 2015
Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.
Gnad F et al.
Bmc Genomics, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.
Zhao H et al.
Elife, 2014
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.
Fontebasso AM et al.
Acta Neuropathologica, 2013
Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.
Rodriguez Almaraz E et al.
Neuro-oncology Advances, 0