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

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

13.0K
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...
13.0K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

8.1K
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...
8.1K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

9.2K
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...
9.2K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.1K
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.
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...
5.1K

You might also read

Related Articles

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

Sort by
Same author

Implementing Timely Germline Genetic Testing for Patients With Pancreatic Cancer Using a Genetics Copilot for Point-of-Care Education and Health Assessment.

JCO precision oncology·2026
Same author

The Evolution and Validation of Thyroid Cancer Guidelines as Evidence Advances Toward Individualized Therapy.

The Journal of clinical endocrinology and metabolism·2026
Same author

The Clinical Application of Refined Risk Estimates (caRe) Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A Randomized Controlled Trial.

Cancer prevention research (Philadelphia, Pa.)·2026
Same author

Telomere maintaining germline and somatic variants in thyroid cancer and melanoma.

medRxiv : the preprint server for health sciences·2026
Same author

Combined Urogynecology and Gynecologic Oncology Surgery Complications.

Urogynecology (Philadelphia, Pa.)·2026
Same author

Radiation Quality and Workflow in NRG GY017: Anti-PD-L1 (Atezolizumab) as an Immune Primer or Concurrently With Radiation Therapy for Node-Positive Locally Advanced Cervical Cancer.

International journal of radiation oncology, biology, physics·2026
Same journal

Identification of a Novel <i>GOLGB1-RET</i> Fusion in Papillary Thyroid Cancer With a Durable Response to Selpercatinib.

JCO precision oncology·2026
Same journal

Cross-Platform Gene Signature to Predict Survival Outcomes for Nasopharyngeal Carcinoma.

JCO precision oncology·2026
Same journal

Perspectives From an Expert-Guided Discussion on Maximizing the Research Potential of Small Biopsy Tissue.

JCO precision oncology·2026
Same journal

Complete Response to Immune Checkpoint Inhibitor-Based Combination Therapy in PD-L1-High, Tumor Mutational Burden-Low Ovarian Sarcomatoid Squamous Cell Carcinoma.

JCO precision oncology·2026
Same journal

Emergence of Microsatellite Instability in an Oncogene-Driven Non-Small Cell Lung Cancer Harboring a Canonical <i>EGFR</i> Mutation: A Molecular Tumor Board Discussion.

JCO precision oncology·2026
Same journal

Frequency and Prognostic Significance of Genetic Abnormalities in a Subgroup of Patients With Intermediate-Risk Neuroblastoma: A SIOPEN Study.

JCO precision oncology·2026
See all related articles

Related Experiment Video

Updated: Sep 16, 2025

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

859

Germline POT1 Variants in a Pan-Cancer Cohort.

Pamela L Brock1, Morgan Webster2, Sandya Liyanarachchi3

  • 1Division of Human Genetics, The Ohio State University College of Medicine, Comprehensive Cancer Center, Columbus, OH.

JCO Precision Oncology
|July 9, 2025
PubMed
Summary
This summary is machine-generated.

Germline POT1 variants increase cancer risk, particularly chronic lymphocytic leukemia (CLL) and papillary thyroid cancer (PTC). This study in a large pan-cancer cohort found POT1 variants are linked to earlier cancer diagnosis.

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

12.4K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

11.9K

Related Experiment Videos

Last Updated: Sep 16, 2025

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

859
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

12.4K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

11.9K

Area of Science:

  • Genetics and Genomics
  • Oncology
  • Cancer Predisposition Syndromes

Background:

  • Germline likely pathogenic and pathogenic variants (LPV/PVs) in the POT1 gene are associated with increased risks for several cancers.
  • Previous studies on POT1 variants often used selected patient cohorts, potentially introducing ascertainment bias.
  • Understanding POT1 variant associations in unselected pan-cancer cohorts is crucial for accurate risk assessment.

Purpose of the Study:

  • To identify germline POT1 LPV/PVs within a large, diverse pan-cancer cohort.
  • To characterize the spectrum of cancer phenotypes associated with germline POT1 variants.
  • To assess the association between POT1 variants and specific cancer types, including chronic lymphocytic leukemia (CLL) and papillary thyroid cancer (PTC).

Main Methods:

  • Analysis of germline exome data from 19,315 cancer patients in the Oncology Research Information Exchange Network (ORIEN).
  • Identification of patients with germline POT1 LPV/PVs.
  • Comparison of cancer diagnoses and age of onset between patients with and without POT1 variants.

Main Results:

  • POT1 LPV/PVs were identified in 23 patients.
  • Significant associations were found between POT1 LPV/PVs and chronic lymphocytic leukemia (CLL) (16.6-fold increased likelihood) and papillary thyroid cancer (PTC) (5.5-fold increased likelihood).
  • Patients with POT1 LPV/PVs were diagnosed with their first cancer at a significantly younger median age compared to POT1-negative patients.

Conclusions:

  • This study represents the largest investigation of germline POT1 variants in a pan-cancer cohort to date.
  • Specific associations between POT1 variants and CLL and PTC are confirmed.
  • Findings underscore the importance of studying gene-cancer associations in unselected populations to mitigate bias and refine understanding of cancer predisposition.