Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
The role of multi-organ cancer predisposition genes in the risk of inherited and histologically diverse gastric cancer.
Guerra J et al.
Ebiomedicine, 2025
Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.
Magnarelli A et al.
The Journal of Allergy and Clinical Immunology, 2025
The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.
Erices JI et al.
Frontiers in Oncology, 2025
Copy number signatures and CCNE1 amplification reveal the involvement of replication stress in high-grade endometrial tumors oncogenesis.
Marlin R et al.
Cellular Oncology (dordrecht, Netherlands), 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
Adherence to NCCN Genetic Testing Guidelines in Pancreatic Cancer and Impact on Treatment.
Crowley F et al.
The Oncologist, 2023
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent.
Das S et al.
European Journal of Medical Genetics, 2023
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
Clinical and genetic characteristics in pancreatic cancer from Chinese patients revealed by whole exome sequencing.
He Y et al.
Frontiers in Oncology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
Inter-assay variability of next-generation sequencing-based gene panels.
Quy PN et al.
Bmc Medical Genomics, 2022
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Ren M et al.
Breast Cancer Research and Treatment, 2021
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson Q et al.
European Urology Oncology, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Molecular and clinical determinants of response and resistance to rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2).
Swisher EM et al.
Nature Communications, 2021
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Feliubadaló L et al.
Clinical Chemistry, 2021
High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.
Kim JE et al.
Experimental & Molecular Medicine, 2021
Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.
Feng Z et al.
Annals of Translational Medicine, 2021
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Kang T et al.
Breast Cancer Research : Bcr, 2020
Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Brandão A et al.
International Journal of Molecular Sciences, 2020
Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.
Boot A et al.
Genome Research, 2020
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
Gong R et al.
Cancer Management and Research, 2019
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Hampel H et al.
Jama Oncology, 2018
Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer.
Kondo T et al.
Oncotarget, 2018
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016