Ettore Capoluongo
UOA Diagnostica Molecolare e Genomica Fondazione Policlinico Gemelli, IRCCS, Italy Universita Cattolica del Sacro Cuore, Italy
Posters & Accepted Abstracts: Biochem Mol biol J
Somatic BRCA testing (sBRCA) is emerging as a powerful tool to discover and identify more mutations in high serous ovarian cancer patients. Despite its clinical utility, the availability of some technologies, able to enrich somatic mutation from FFPE samples, still requires further adjustments before being completely considered as a validated routine assay. In the last two years, my lab has experienced as the know-how on BRCA germline testing cannot be completely transferred to the somatic NGS pipeline, being the two conditions very different. In light to better underline the main pitfalls and criticisms regarding sBRCA1/2 along with its usefulness in clinical routine setting, the present talk will cover the following issues: Why tumor BRCA1/2 testing is important? What are the pitfalls that can strongly affect sBRCA testing; NGS technology needs to be complemented by other Dx tools; how to solve these issues and accelerate the routine use of sBRCA1/2 testing; the experience of my lab on 3000 ovarian cancer women screened.
E-mail:
EDOTTO70@GMAIL.COM
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