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Updated: May 4, 2026

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
08:15

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

Published on: October 6, 2014

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BCL2L11を家族全体のエクソーム配列を用いた非髄膜性甲状腺がんへの遺伝的傾向の候補遺伝子として特定

Duygu Abbasoglu1,2, Mathis Lepage1,2, Nicolas Sonnier1,2

  • 1Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France.

Clinical genetics
|September 4, 2025
PubMed
まとめ

遺伝的要因は家族性非髄性甲状腺がん (FNMTC) に大きく寄与する. 研究者はBCL2L11を含む3つの候補遺伝子を特定し,これは遺伝性甲状腺癌の役割を示唆する腫瘍抑制活性を示しています.

キーワード:
BCL2L11 についてTELO2 についてUACA家族性非骨髄性甲状腺がん遺伝的傾向全エクソームシーケンシング

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Comparative Lesions Analysis Through a Targeted Sequencing Approach

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Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
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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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