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Updated: May 27, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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在患有转移性乳腺癌的患者中,致病性生殖系变异

Kaitlin Demarest1, Arravinth Anantharajah1, Kara N Maxwell1,2,3

  • 1Basser Center for BRCA, University of Pennsylvania, Philadelphia.

JAMA network open
|February 18, 2025
PubMed
概括

致病性生殖系变异 (PGVs) 在转移性乳腺癌 (MpBC) 中很常见,其中BRCA1是最常见的. 胚胎基因检测对于在MBC患者中识别这些变异非常有效.

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