Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.

doi:10.1007/s11033-019-05199-3

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Article

Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.

Molecular biology reports - 1 Feb 2020

Minucci Angelo, Mazzuccato Giorgia, D'Indinosante Marco, Di Nardo Lucia, Concolino Paola, De Bonis Maria, Urbani Andrea, Scambia Giovanni, Fagotti Anna, Capoluongo Ettore

Abstract excerpt

Correct classification of genomic variants causing potentially aberrant splicing is of utmost importance for patient management, especially in clinically actionable genes such as BRCA1/2. In this article, we report molecular evaluation of the BRCA1 c.439T>C (rs794727800, p.Leu147=) variant based on RNA of a patient suffering with high-grade serous ovarian cancer syndrome, to add new evidence to the only in silico...

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PMID: 31833030
DOI: 10.1007/s11033-019-05199-3

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