Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

4.8K
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...
4.8K
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

3.5K
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...
3.5K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

11.8K
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...
11.8K
Abnormal Proliferation02:23

Abnormal Proliferation

4.5K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.5K
Mutations01:39

Mutations

81.1K
Overview
81.1K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

7.3K
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.
Such genes that act...
7.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Effectiveness of daratumumab plus bortezomib, lenalidomide, and dexamethasone (DVRd) versus VRd for transplant-eligible newly diagnosed multiple myeloma.

Future oncology (London, England)·2026
Same author

Linvoseltamab versus elranatamab for triple-class exposed relapsed or refractory multiple myeloma: an indirect treatment comparison.

Leukemia & lymphoma·2026
Same author

Belantamab mafodotin, a BCMA-directed antibody-drug conjugate for multiple myeloma.

Future oncology (London, England)·2026
Same author

A systematic review of indirect treatment comparisons among recently approved chimeric antigen receptor T-cell and bispecific antibody therapies for triple-class exposed relapsed/refractory multiple myeloma.

Current medical research and opinion·2026
Same author

Comparative Efficacy of Belantamab Mafodotin in Combination With Bortezomib and Dexamethasone Versus Standards of Care in Patients With Third-Line or Later Relapsed/Refractory Multiple Myeloma.

American journal of hematology·2026
Same author

Timing and Pattern of Extraosseous Dissemination Are Key Determinants of Survival in Multiple Myeloma.

American journal of hematology·2026

Related Experiment Video

Updated: Jun 13, 2025

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.0K

Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.

Santiago Thibaud1, Ryan L Subaran2, Scott Newman2

  • 1Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, New York.

Blood Cancer Discovery
|September 16, 2024
PubMed
Summary

Genetic variants in DNA repair genes increase multiple myeloma risk. Pathogenic germline variants (PGVs) are linked to earlier diagnosis and better outcomes after stem-cell transplant, suggesting genetic testing for at-risk patients.

More Related Videos

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

12.2K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

24.3K

Related Experiment Videos

Last Updated: Jun 13, 2025

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.0K
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

12.2K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

24.3K

Area of Science:

  • Genetics
  • Oncology
  • Cancer Predisposition

Background:

  • First-degree relatives of multiple myeloma patients have increased risk.
  • The role of pathogenic germline variants (PGVs) in hereditary cancer genes for multiple myeloma is not well understood.

Purpose of the Study:

  • To investigate the contribution of PGVs in hereditary cancer genes to multiple myeloma risk and patient outcomes.
  • To analyze germline exomes in two independent multiple myeloma cohorts.

Main Methods:

  • Germline exome analysis in 1,781 patients with multiple myeloma across two cohorts.
  • Comparison of PGV frequencies with a large control cohort (134,187 individuals).
  • Association analysis of PGVs with clinical characteristics and treatment outcomes.

Main Results:

  • PGVs were identified in 8.6% and 11.5% of the discovery and replication cohorts, respectively.
  • PGVs in BRCA1 and BRCA2 were significantly enriched in multiple myeloma patients.
  • Autosomal dominant cancer predisposition PGVs were associated with younger age at diagnosis and improved progression-free survival after specific treatments.

Conclusions:

  • Approximately 10% of multiple myeloma patients may have an undiagnosed cancer predisposition syndrome.
  • Genetic testing is recommended for young or newly diagnosed multiple myeloma patients with personal or family cancer history.
  • PGVs may indicate favorable outcomes with high-dose melphalan and autologous stem-cell transplantation.