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The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought.

Molecular biology reports - 1 Mar 2021

De Paolis Elisa, Pietragalla Antonella, De Bonis Maria, Fagotti Anna, Urbani Andrea, Scambia Giovanni, Minucci Angelo

Abstract excerpt

In this report we described the case of a BRCA1/2 (BRCA) molecular testing performed on tumor sample in a High Grade Serous Ovarian Cancer (HGSOC) patient with two different Next Generation Tumor Sequencing (NGTS) pipelines. The two clinical reports leaded to apparently different BRCA status, providing important foods for thought. After NGTS, the gene sequencing information (i.e., reads) are aligned to the...

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BRCA1 Protein
Cystadenocarcinoma, Serous
Neoplasm Grading
Ovarian Neoplasms
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33656647
DOI: 10.1007/s11033-021-06243-x

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