Ontology highlight
ABSTRACT:
SUBMITTER: Friedman E
PROVIDER: S-EPMC4333503 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
British journal of cancer 20150129 4
<h4>Background</h4>Pathogenic BRCA1 mutations are usually inherited. Constitutional low-level BRCA1 mosaicism has never been reported.<h4>Methods</h4>Next-generation sequencing (NGS) of cancer gene panel of germline and tumour DNA in a patient with early onset, triple-negative breast cancer.<h4>Results</h4>Constitutional de novo mosaicism (5%) for a pathogenic (c.1953dupG; p.Lys652Glufs*21) BRCA1mutation was detected in leukocytes, buccal tissue and normal breast tissue DNA, with ∼50% mutation i ...[more]