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Article

Aneuploidy and a deregulated DNA damage response suggest haploinsufficiency in breast tissues of BRCA2 mutation carriers.

Science advances - 1 Jan 2020

Karaayvaz-Yildirim Mihriban, Silberman Rebecca E, Langenbucher Adam, Saladi Srinivas Vinod, Ross Kenneth N, Zarcaro Elena, Desmond Andrea, Yildirim Murat, Vivekanandan Varunika, Ravichandran Hiranmayi, Mylavagnanam Ravindra, Specht Michelle C, Ramaswamy Sridhar, Lawrence Michael, Amon Angelika, Ellisen Leif W

Abstract excerpt

Women harboring heterozygous germline mutations of BRCA2 have a 50 to 80% risk of developing breast cancer, yet the pathogenesis of these cancers is poorly understood. To reveal early steps in BRCA2-associated carcinogenesis, we analyzed sorted cell populations from freshly-isolated, non-cancerous breast tissues of BRCA2 mutation carriers and matched controls. Single-cell whole-genome sequencing demonstrates that...

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Identifiers

PMID: 32064343
DOI: 10.1126/sciadv.aay2611
PMCID: PMC6989139

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