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Background <p>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 <i>BRCA1</i> and <i>2</i> genes playing the most important role.</p> Methods and results <p>We performed the search for any somatic and/or germline alteration in patient’s samples by next generation sequencing (NGS). On two patients, our bioinformatic tools allowed us to correctly classify the c.2463_2464delTA <i>BRCA1</i> new variant.</p> Conclusions <p>The novel <i>BRCA1</i> c.2463_2464delTA variant which falls into the DNA Binding Domain (DBD) of the <i>BRCA1</i> gene can be considered as a variant of clinical significance due to the peculiar family and personal history of patients.</p>

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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

  • 期刊论文

  • 发表日期：

    2025年1月7日

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

摘要

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 playing the most important role.

Methods and results

We performed the search for any somatic and/or germline alteration in patient’s samples by next generation sequencing (NGS). On two patients, our bioinformatic tools allowed us to correctly classify the c.2463_2464delTA BRCA1 new variant.

Conclusions

The novel BRCA1 c.2463_2464delTA variant which falls into the DNA Binding Domain (DBD) of the BRCA1 gene can be considered as a variant of clinical significance due to the peculiar family and personal history of patients.