Lombardo Valentina, Scandurra Giuseppa, Pettinato Angela, Scaglione Giovanni Luca, Scollo Paolo, Capoluongo Ettore D
Department of Medical Oncology, A.O.E. Cannizzaro, Catania, Italy.
Faculty of Medicine, "Kore" University, Enna, Italy.
Mol Biol Rep. 2025 Jan 7;52(1):103. doi: 10.1007/s11033-024-10213-4.
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.
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.
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.
卵巢癌是全球女性癌症死亡的主要原因之一，其治疗格局也在不断演变。治疗方案选择的一个主要决策点是某些基因组改变的存在，这些改变可能使患者对新出现的疗法敏感，包括聚（ADP - 核糖）聚合酶（PARPi）抑制剂，其中BRCA1和2基因发挥着最重要的作用。
我们通过二代测序（NGS）对患者样本中的任何体细胞和/或种系改变进行了检测。在两名患者中，我们的生物信息学工具使我们能够正确分类c.2463_2464delTA这一BRCA1新变体。
由于患者特殊的家族史和个人史，位于BRCA1基因DNA结合域（DBD）的新型BRCA1 c.2463_2464delTA变体可被视为具有临床意义的变体。
