PDF(Pubmed)
Abstract：
UNASSIGNED: Accurate identification and characterization of Large Genomic Rearrangements (LGR), especially duplications, are crucial for precise diagnosis and risk assessment. In this report, we characterized an intragenic duplication breakpoint of PALB2 to determine its pathogenicity significance.
UNASSIGNED: A 52-year-old female with triple-negative breast cancer was diagnosed with a novel PALB2 LGR. An efficient and accurate methodology was applied, combining long-read sequencing and transcript analysis for the rapid characterization of the duplication.
UNASSIGNED: Duplication of exons 5 and 6 of PALB2 was validated by transcript analysis. Long-read sequencing enabled the localization of breakpoints within Alu elements, providing insights into the mechanism of duplication via non-allelic homologous recombination.
UNASSIGNED: Using our combined methodology, we reclassified the PALB2 duplication as a pathogenic variant. This reclassification suggests a possible causative link between this specific genetic alteration and the aggressive phenotype of the patient.
UNASSIGNED: A 52-year-old female with triple-negative breast cancer was diagnosed with a novel PALB2 LGR. An efficient and accurate methodology was applied, combining long-read sequencing and transcript analysis for the rapid characterization of the duplication.
UNASSIGNED: Duplication of exons 5 and 6 of PALB2 was validated by transcript analysis. Long-read sequencing enabled the localization of breakpoints within Alu elements, providing insights into the mechanism of duplication via non-allelic homologous recombination.
UNASSIGNED: Using our combined methodology, we reclassified the PALB2 duplication as a pathogenic variant. This reclassification suggests a possible causative link between this specific genetic alteration and the aggressive phenotype of the patient.
摘要：
■大基因组重排（LGR）的准确识别和表征，尤其是重复，对于精确诊断和风险评估至关重要。在这份报告中,我们表征了PALB2的基因内重复断点以确定其致病性意义。
■一名52岁女性患有三阴性乳腺癌，被诊断出患有新型PALB2LGR。采用了高效准确的方法，结合长读数测序和转录本分析，以快速表征重复。
■通过转录本分析验证了PALB2外显子5和6的重复。长读取测序能够在Alu元素中定位断点，通过非等位基因同源重组提供对复制机制的见解。
■使用我们的组合方法，我们将PALB2重复重新分类为致病变异.这种重新分类表明，这种特定的遗传改变与患者的侵袭性表型之间可能存在因果关系。
■一名52岁女性患有三阴性乳腺癌，被诊断出患有新型PALB2LGR。采用了高效准确的方法，结合长读数测序和转录本分析，以快速表征重复。
■通过转录本分析验证了PALB2外显子5和6的重复。长读取测序能够在Alu元素中定位断点，通过非等位基因同源重组提供对复制机制的见解。
■使用我们的组合方法，我们将PALB2重复重新分类为致病变异.这种重新分类表明，这种特定的遗传改变与患者的侵袭性表型之间可能存在因果关系。
