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Identification of the novel BRCA1 c.2463_2464delTA mutation in two high grade serous ovarian cancer sisters and potential dosage effects implications: a case report.

Molecular biology reports - 7 Jan 2025

Lombardo Valentina, Scandurra Giuseppa, Pettinato Angela, Scaglione Giovanni Luca, Scollo Paolo, Capoluongo Ettore D

Abstract excerpt

BACKGROUND: Ovarian Cancer is one of the leading causes of cancer death among women worldwide and the therapeutic landscape to treat it is constantly evolving. One of the major points of decision for the treatment choice is the presence of some genomic alterations that could confer sensitivity to the new available therapies including inhibitors of poly (ADP-ribose) polymerase (PARPi) with BRCA1 and 2 genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39775979
DOI: 10.1007/s11033-024-10213-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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