Aneuploidy and a deregulated DNA damage response suggest haploinsufficiency in breast tissues of <i>BRCA2</i> mutation carriers
Mihriban Karaayvaz, Rebecca E. Silberman, Adam Langenbucher, Srinivas Vinod Saladi, Kenneth N. Ross, Elena Zarcaro, Andrea Desmond, Murat Yıldırım, Varunika Vivekanandan, Hiranmayi Ravichandran, Ravindra Mylavagnanam, Michelle C. Specht, Sridhar Ramaswamy, Michael S. Lawrence, Angelika Amon, Leif W. Ellisen
Abstract
haploinsufficiency and associated DNA damage precede histologic abnormalities in vivo. Using these hallmarks of cancer predisposition will yield unanticipated opportunities for improved risk assessment and prevention strategies in high-risk patients.
Topics & Concepts
HaploinsufficiencyDNA damageAneuploidyMutationGeneticsBiologyDNACancer researchChromosomePhenotypeGeneGenomic variations and chromosomal abnormalitiesDNA Repair MechanismsBRCA gene mutations in cancer