Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations

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...

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Bibliographic Details
Main Authors: Teresia Wangensteen, Caroline Nangota Felde, Deeqa Ahmed, Lovise Mæhle, Sarah Louise Ariansen
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
BRCA1
BRCA2
mRNA
Splicing
RT-PCR
Variant of unknown significance
Online Access:http://link.springer.com/article/10.1186/s13053-019-0113-9

Internet

http://link.springer.com/article/10.1186/s13053-019-0113-9

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