Inside Diagnostics Deeper understanding of the role of somatic BRCA mutations

A recent publication sparks discussions on the value of tBRCA testing. A polish research group compared BRCA test results by sequencing the tumour and normal tissue from 100 patients distinguishing between somatic and germline mutations and came to some remarkable conclusions.

By analysing the somatic BRCA results they were able to identify 6 new frameshift mutations.The heterogeneity of the detected mutations confirms the necessity of simultaneous analysis of BRCA1/2 genes in all patients diagnosed with serous ovarian carcinoma. Moreover, the use of tumor tissue for mutational analysis allowed the detection of both somatic and germline BRCA1/2 mutations.

Read the abstract on PubMed

 

Rudy Hovelinck
Diagnostics Manager AstraZeneca

 

 

NS Approval ID 1025311 Revision date 12/2016

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About the Author

Rudy Hovelinck

Diagnostics Manager AstraZeneca

rudy.hovelinck@astrazeneca.com

M. +32 (0) 476 22 58

Rudy Hovelinck obtained a scientific degree first in biochemistry at Ghent University and later in Molecular Biology at the ULB. Initially exploring the academic world in diverse fields as genetics, protein chemistry and virology, he soon realised that bridging scientific knowledge to the medical world was a more meaningful way of spending his professional life. This journey started in the field of pathology biomarker testing, introducing HER2 IHC and ISH testing for patient therapy selection and continued in the field of molecular oncology. Today at AstraZeneca he works as a diagnostics manager. In this role he is passionately contributing to the successful introduction of novel biomarkers and support current testing strategies for patient selection. In his own time he enjoys travelling with his family exploring the world and spending time close to nature. Specialties: Oncology, Anatomic Pathology, Biomarker Development, Medical Devices.