Renaissance Humanism and Ethnicity before Race:The Irish and the English in the Seventeenth Century

Inspired both by debates about the origins of the modern ideology of race and also by controversy over the place of Ireland and the Irish in theories of empire in the early modern Atlantic world, Renaissance Humanism and Ethnicity before Race argues that ethnic discourse among the elite in early modern Ireland was grounded firmly in the Renaissance Humanism and Aristotelianism which dominated all the European universities before the Enlightenment. Irish and English, Catholic and Protestant, all employed theories of human society based on Aristotle’s Politics and the natural law of the medieval universities to construct or dismantle the categories of civility and barbarism. The elites operating in Ireland also shared common resources, taught in the universities, for arguing about the human body and its ability to transmit hereditary characteristics. Both in Ireland and elsewhere in Europe, these theories of human society and the human body underwent violent changes in the late seventeenth century under the impact of the early Enlightenment. These changes were vital to the development of race as we know it.

Identification of potentially pathogenic variants in candidate breast and ovarian cancer susceptibility genes in BRCAX patients

Mutations within the BRCA1 and BRCA2 genes account for approximately 20% of hereditary breast cancers, with a further 10%–15% being attributable to rare mutations in moderate-risk genes and common variants in low-risk genes. The genes harbouring mutations in the remaining ∼65% of hereditary breast cancers are unknown. The identification of mutation carriers in hereditary breast and ovarian cancer (hboc) families is critical for determining who is most at risk of developing the disease and therefore who should be offered risk-reducing procedures or more intensive screening, or both.

Many of the high- and moderate-risk genes for hereditary breast cancers encode proteins that work in concert to maintain genomic stability and in dna damage signalling and repair. A novel BRCA1 protein complex identified within the research group whose target genes are involved in dna repair provided novel candidates for hboc susceptibility genes. These 12 candidate genes were sequenced in a cohort of 675 affected individuals from the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) with hereditary breast or ovarian cancer, but with no mutations in known susceptibility genes (BRCAx patients). This analysis identified 20 individuals (each from a different BRCAx family) with different potentially pathogenic variants across 6 of the candidate hboc susceptibility genes. The family members of each BRCAx index case were tested for the presence of the specific mutation identified in the proband to examine segregation with disease. To further expand on the potential role of the novel candidate hboc susceptibility genes identified in this study, the genetic variation of a second cohort of 520 Northern Irish BRCAx patients is being characterized using a 61-gene panel.