Associated Papers
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
A Pilot Study: Contrasting Genomic Profiles of Lung Adenocarcinoma Between Patients of European and Latin American Ancestry.
Rueda-Zarazua B et al.
International Journal of Molecular Sciences, 2025
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.
Aguilar D et al.
Jco Global Oncology, 2025
Genomic trajectories of colorectal cancer with choroidal metastasis: longitudinal insights from tissue and liquid biopsy via next-generation sequencing.
Ottaiano A et al.
Frontiers in Genetics, 2025
Frequency of Deleterious Germline Variants in HER2-Low Breast Cancer Patients Using a Hereditary Multipanel Gene Testing.
Cassoli JPB et al.
Current Issues in Molecular Biology, 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
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.
Rostami MR et al.
Molecular Therapy. Methods & Clinical Development, 2023
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Mazel B et al.
Cancer Medicine, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.
Horackova K et al.
Cancers, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 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
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Yurgelun MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
Couch FJ et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
Pennington KP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014
Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers.
Wang X et al.
Cancer Research, 2008