2022
Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer
Liu Y, Helgadottir HT, Kharaziha P, Choi J, López-Giráldez F, Mane SM, Höiom V, Juhlin CC, Larsson C, Bajalica-Lagercrantz S. Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer. Biomedicines 2022, 10: 1004. PMID: 35625741, PMCID: PMC9138793, DOI: 10.3390/biomedicines10051004.Peer-Reviewed Original ResearchHereditary breast cancerBreast cancerWhole-exome sequencingBreast cancer susceptibilityHereditary cancer-related genesHigh-risk cancer genesFamilial casesCancer susceptibilityAutosomal dominant inheritance patternDominant inheritance patternPrevalent malignancyFamily historyCancer-related genesCancer-related pathwaysPathogenic variantsProtein expression analysisGermline variantsCancerFunction variantsExome sequencingRecurrent genesRisk variantsInheritance patternMinor allele frequencyExonic variants
2019
Genomic and Immune Profiling of a Patient With Triple-Negative Breast Cancer That Progressed During Neoadjuvant Chemotherapy Plus PD-L1 Blockade
Casadevall D, Li X, Powles RL, Wali VB, Buza N, Pelekanou V, Dhawan A, Foldi J, Szekely B, Lopez-Giraldez F, Hatzis C, Pusztai L. Genomic and Immune Profiling of a Patient With Triple-Negative Breast Cancer That Progressed During Neoadjuvant Chemotherapy Plus PD-L1 Blockade. JCO Precision Oncology 2019, 3: po.18.00335. PMID: 32914041, PMCID: PMC7450962, DOI: 10.1200/po.18.00335.Peer-Reviewed Original Research