Article
Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.
International journal of molecular sciences - 30 Jun 2020
Bozsik Anikó, Pócza Tímea, Papp János, Vaszkó Tibor, Butz Henriett, Patócs Attila, Oláh Edit
Abstract excerpt
Large genomic rearrangements (LGRs) affecting one or more exons of BRCA1 and BRCA2 constitute a significant part of the mutation spectrum of these genes. Since 2004, the National Institute of Oncology, Hungary, has been involved in screening for LGRs of breast or ovarian cancer families enrolled for genetic testing. LGRs were detected by multiplex ligation probe amplification method, or next-generation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
