Related Experiment Video

Updated: Jul 15, 2025

Integration of Bioinformatics Approaches and Experimental Validations to Understand the Role of Notch Signaling in Ovarian Cancer
09:08

Integration of Bioinformatics Approaches and Experimental Validations to Understand the Role of Notch Signaling in Ovarian Cancer

Published on: January 12, 2020

6.8K

SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer

Laura M Harbin1, Nan Lin2, Frederick R Ueland1

  • 1Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Kentucky Markey Cancer Center, 800 Rose Street, Lexington, KY 20536-0596, USA.

International Journal of Molecular Sciences
|September 28, 2023
PubMed

Insights

SYNE1 mutations are more common in ovarian cancer patients with recurrent disease. These mutations correlate with higher tumor mutation burden and increased immune cell infiltration, suggesting SYNE1 as a potential biomarker for immunotherapy response.

Area of Science:

  • Oncology
  • Genetics
  • Immunology

Background:

  • The nuclear envelope protein SYNE1 is downregulated in many cancers, including gynecologic and ovarian cancers.
  • Previous research links SYNE1 mutations to increased tumor mutation burden (TMB) and improved immunotherapy outcomes.

Purpose of the Study:

  • To investigate SYNE1 mutation frequency in ovarian cancer.
  • To assess the association between SYNE1 mutations, TMB, and immune responses.
  • To evaluate SYNE1 as a potential biomarker for immunotherapy in ovarian cancer.

Main Methods:

  • Genetic analysis including whole-exome sequencing and RNA analysis of ovarian cancer patients.
  • Comparison of mutation frequencies between an institutional cohort and The Cancer Genome Atlas (TCGA).
  • Bioinformatics analysis to assess TMB and gene expression related to immune response.

Main Results:

  • SYNE1 mutations were identified in 32% of the institutional cohort, significantly higher than TCGA (6%).
  • SYNE1-mutated patients exhibited a median TMB of 25, compared to 7 in wild-type patients (p < 0.0001).
  • Increased gene expression related to immune cell trafficking and inflammatory response was observed in SYNE1-mutated tumors.

Conclusions:

  • SYNE1 mutation is significantly associated with increased TMB and immune cell infiltration in ovarian cancer.
  • SYNE1 alterations may represent a valuable biomarker for predicting immunotherapy response in ovarian cancer patients.
Keywords:
SYNE1immunotherapyovarian cancertumor mutation burden

More Related Videos

Assessment of Ovarian Cancer Spheroid Attachment and Invasion of Mesothelial Cells in Real Time14:25

Assessment of Ovarian Cancer Spheroid Attachment and Invasion of Mesothelial Cells in Real Time

Published on: May 20, 2014

17.4K
Author Spotlight: Unveiling the Role of TMOD3 in Platinum Resistance and Immune Infiltration in Ovarian Cancer09:40

Author Spotlight: Unveiling the Role of TMOD3 in Platinum Resistance and Immune Infiltration in Ovarian Cancer

Published on: August 2, 2024

2.7K

Related Concept Videos

Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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...
4.9K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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...
12.0K
Tumor Progression02:07

Tumor Progression

Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.4K
Adaptive Mechanisms in Cancer Cells02:53

Adaptive Mechanisms in Cancer Cells

Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
5.8K
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
3.8K
The Nucleolus02:55

The Nucleolus

The nucleolus is the most prominent substructure of the nucleus. When it was first discovered, it was considered to be an isolated organelle that forms fibrils and granules. In 1931, the relationship between the nucleolus and chromosomes was first described by Heitz. He observed that the appearance and size of nucleolus varies depending on the stage of the cell cycle. He also noticed constricted regions on different chromosomes clustered together at definite cell cycle stages. These regions,...
8.9K