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Updated: Jun 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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Published on: October 6, 2014

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生殖线双性BRCA2致病变体和脑髓母细胞瘤:国际队列研究

Svenja Kastellan1, Reinhard Kalb2, Bia Sajjad3

  • 1Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

Journal of hematology & oncology
|April 29, 2024
PubMed
概括

芬科尼贫血 (FA) 患有双性BRCA2变异的患者患有脑髓母细胞瘤 (MB) 的风险很高. 这种罕见的胚胎瘤在患有BRCA2变异的FA患者中是侵略性的,通常是致命的,需要新的治疗策略.

关键词:
这就是BRCA2的原因.芬科尼贫血症是什么意思中枢细胞瘤 (Medulloblastoma) 是一个

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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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