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Updated: Aug 11, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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使用瘤测序识别乳腺癌的生殖系致病变体

Mara Cruellas1, Andri Papakonstantinou2, Adrià López-Fernández1

  • 1Medical Oncology Service, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Institute of Oncology (VHIO), Spain; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Spain.

Breast (Edinburgh, Scotland)
|March 16, 2025
PubMed
概括

公司内部的瘤测序小组有效地识别了具有生殖系致病变体 (gPV) 的乳腺癌患者,显示了91%的灵敏度和93%的特异性. 这种方法可靠地用于诊断乳腺癌的临床实施.

关键词:
这就是BRCA1的原因.这就是BRCA2的原因.乳腺癌是什么? 乳腺癌是什么遗传性癌症是一种遗传性癌症.瘤的测序是指瘤的测序.

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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
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