Deuitch N

ORCID: 0000-0002-0146-1162 · 1 paper in corpus · active 2020
2020
Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.
Human genome variation ·doi:10.1038/s41439-020-00111-z

Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (BRCA1, BRCA2 and PALB2) in a 40-year-old female with unilateral breast cancer did not d…