Ontology highlight
ABSTRACT:
SUBMITTER: Karaayvaz-Yildirim M
PROVIDER: S-EPMC6989139 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Karaayvaz-Yildirim Mihriban M Silberman Rebecca E RE Langenbucher Adam A Saladi Srinivas Vinod SV Ross Kenneth N KN Zarcaro Elena E Desmond Andrea A Yildirim Murat M Vivekanandan Varunika V Ravichandran Hiranmayi H Mylavagnanam Ravindra R Specht Michelle C MC Ramaswamy Sridhar S Lawrence Michael M Amon Angelika A Ellisen Leif W LW
Science advances 20200129 5
Women harboring heterozygous germline mutations of <i>BRCA2</i> have a 50 to 80% risk of developing breast cancer, yet the pathogenesis of these cancers is poorly understood. To reveal early steps in <i>BRCA2</i>-associated carcinogenesis, we analyzed sorted cell populations from freshly-isolated, non-cancerous breast tissues of <i>BRCA2</i> mutation carriers and matched controls. Single-cell whole-genome sequencing demonstrates that >25% of <i>BRCA2</i> carrier (<i>BRCA2<sup>mut/+</sup></i> ) l ...[more]