Video Experimental Relacionado

Updated: Jan 13, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

Riesgo de mieloma múltiple relacionado con genes de respuesta a daños en el ADN

Michael Conry¹, Irina Ostrovnaya², Yelena Kemel¹

¹Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Journal of hematology & oncology

|January 6, 2026

Resumen

Las mutaciones heredadas en genes de respuesta a daños en el ADN (DDRG) como TP53 y ATM aumentan el riesgo de mieloma múltiple (MM) y pueden predecir una supervivencia más pobre. Este hallazgo ayuda a identificar a personas de alto riesgo para un cribado específico.

Área de la Ciencia:

Genética; Oncología; Biología Molecular

Sus antecedentes:

Los genes de respuesta a daños en el ADN (DDRG) están relacionados con el riesgo y la agresividad del cáncer.
Su papel en el mieloma múltiple (MM) sigue sin explorarse.

Objetivo del estudio:

Investigar la asociación entre variaciones patógenas en DDRG candidatos y mieloma múltiple (MM).
Explorar las implicaciones clínicas de estas variaciones genéticas en pacientes con MM.

Principales métodos:

Análisis de variaciones patógenas germinales en nueve DDRG.
Se utilizó un conjunto de datos de 3446 casos de MM y 323 333 controles libres de cáncer.

Principales resultados:

El aumento del riesgo de MM se asoció con mutaciones patógenas raras en TP53, ATM, CHEK2, KDM1A y ARID1A.
Estas variantes se enriquecieron en MM de inicio temprano o en aquellos con antecedentes familiares.
Las mutaciones germinales de TP53 o ATM se correlacionaron con una peor supervivencia general en pacientes con MM.

Conclusiones:

Sugiere que el espectro fenotípico de ciertos DDRG se extiende para incluir el mieloma múltiple.
Identificó genes de predisposición germinal para el cribado dirigido en personas de alto riesgo, particularmente aquellas con MM de inicio temprano o antecedentes familiares.

Palabras clave:

Síndromes de predisposición al cáncer Prevención del cáncer Genética del cáncer Neoplasias hematológicas familiares Factores de riesgo genético Predisposición germinal Neoplasias de células plasmáticas Variantes patógenas raras Variantes raras Biomarcadores de supervivencia y pronóstico

Más Videos Relacionados

Detection and Visualization of DNA Damage-induced Protein Complexes in Suspension Cell Cultures Using the Proximity Ligation Assay

Detection and Visualization of DNA Damage-induced Protein Complexes in Suspension Cell Cultures Using the Proximity Ligation Assay

Published on: June 9, 2017

Measuring DNA Damage and Repair in Mouse Splenocytes After Chronic In Vivo Exposure to Very Low Doses of Beta- and Gamma-Radiation

Measuring DNA Damage and Repair in Mouse Splenocytes After Chronic In Vivo Exposure to Very Low Doses of Beta- and Gamma-Radiation

Published on: July 3, 2015

Videos de Conceptos Relacionados

Nucleotide Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...

Nucleotide Excision Repair

Nucleotide Excision Repair

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

Mismatch Repair

Mismatch Repair

DNA Damage can Stall the Cell Cycle

DNA Damage can Stall the Cell Cycle

In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...

DNA Damage Can Stall the Cell Cycle

DNA Damage Can Stall the Cell Cycle

In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...