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