Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (BRCA1, BRCA2 and PALB2) in a 40-year-old female with unilateral breast cancer did not detect any pathogenic variants. Subsequent reanalysis for MEIs detected a novel likely pathogenic insertion of the retrotransposon element (RE) c.7894_7895insSVA in BRCA2. This case highlights the importance of bioinformatic pipeline optimization for the detection of MEIs in genes associated with hereditary cancer, as early detection can significantly impact clinical management.

中文翻译：

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因生殖系移动元件插入导致 BRCA2 破坏的女性患早发乳腺癌：病例报告。

移动元件插入（MEI）有助于基因组多样性，但在某些情况下它们可能导致人类疾病。对一名患有单侧乳腺癌的 40 岁女性进行的初步临床测试（ BRCA1 、 BRCA2和PALB2 ）未检测到任何致病变异。随后对 MEIs 的重新分析检测到BRCA2中逆转录转座子元件 (RE) c.7894_7895insSVA 的新的可能致病性插入。该案例凸显了生物信息学流程优化对于检测与遗传性癌症相关的基因中的 MEI 的重要性，因为早期检测可以显着影响临床管理。