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 variantsWhole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia
Dong W, Wong KHY, Liu Y, Levy-Sakin M, Hung WC, Li M, Li B, Jin SC, Choi J, Lopez-Giraldez F, Vaka D, Poon A, Chu C, Lao R, Balamir M, Movsesyan I, Malloy MJ, Zhao H, Kwok PY, Kane JP, Lifton RP, Pullinger CR. Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia. Journal Of Lipid Research 2022, 63: 100209. PMID: 35460704, PMCID: PMC9126845, DOI: 10.1016/j.jlr.2022.100209.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingCandidate genesDamaging variantsGenome-wide association studiesGenome-wide significanceDamaging rare variantsCandidate gene listGene burden testingHDL-C levelsGene variantsGene listsAssociation studiesLDLR geneGenesBurden testingCancer biologySequencingFunction variantsABCA1Mean HDL-C levelsRare variantsDiscovery studiesCoronary heart diseaseHDL deficiencyRisk of cancer