Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations
Abstract Background Pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Screening of these genes has become easily accessible in diagnostic laboratories. Sequencing and copy number analyses are used to detect pathogenic variants, but also lead to identification of vari...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-05-01
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Series: | Hereditary Cancer in Clinical Practice |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13053-019-0113-9 |