Corporate Banner
Satellite Banner
Scientific Communities
Become a Member | Sign in
Home>News>This Article

Mutations in Novel Tumor Suppressor Gene Associated with Early Onset Breast Cancer and Possibly Other Cancers

Published: Thursday, October 31, 2013
Last Updated: Thursday, October 31, 2013
Bookmark and Share
Scientists have identified an association between heritable, rare mutations in the RINT1 gene and increased risk of early onset breast cancer.

The rare mutations in RINT1, a tumor suppressor gene, were detected in three of 49 families participating in a study that sequenced the whole exome, the protein-coding DNA, of families with multiple individuals affected by breast cancer.

“Although mutations in RINT1 are rare, it is most likely that the remaining unknown breast cancer susceptibility genes will account for similar small proportions of the disease,” said Daniel J Park, Ph.D., who presented the study at ASHG 2013 and is Senior Research Fellow in genetic epidemiology at the University of Melbourne, Australia.

Only about 35 percent of the familial risk for breast cancer has been explained, according to Dr. Park and his collaborators, who added that the discovery of the RINT1 variants’ association with the disease could help members of families with multiple cases of breast cancer to identify their individual risk for developing the cancer.

Dr. Park’s collaborators in the search for unidentified breast cancer susceptibility genes are scientists at the Institute Curie in Paris, International Agency for Research on Cancer in Lyon, France, Huntsman Cancer Institute in Salt Lake City, Utah, as well as the University of Melbourne.

After pinpointing the first three mutations in RINT1 (p.Q115X, p.M378del and p.D403Y), the international team of scientists assessed the association between the variants and breast cancer risk by conducting a population-based case-control study of 1,313 women diagnosed with early-onset breast cancer. Rare RINT1 variants were uncovered in 23 individuals in this group, but in only 6 women out of 1,123 who did not have breast cancer, demonstrating a significant association between RINT1 mutations and risk of early onset breast cancer, according to the researchers.

In parallel, an additional 684 women with breast cancer who are members of multiple-case breast cancer families were screened for RINT1 mutations, and six additional rare mutations were identified.

The scientists reported that research identifying RINT1 as a breast cancer susceptibility gene is consistent with prior studies showing that mice that carry a RINT1 mutation spontaneously develop a variety of tumors, including breast cancer, at a combined rate of 81 percent, which is higher than the rate at which breast cancer spontaneously develops in laboratory mice that have a BRCA1 mutation.

In their analysis of the families of women with RINT1 mutations, the researchers found a statistically significant 2 to 3-fold excess of cancers associated with mismatch repair defects, such as those found in patients with hereditary colorectal cancer without polyps. This finding indicates that RINT1 mutations may predispose to several other types of tumors, the scientists reported.

Previous studies have shown that RINT1 serves as a tumor suppressor essential for maintaining the function of the Golgi apparatus, which packages proteins inside the cell, and the integrity of the centrosome, which coordinates mitosis, a stage of cell division that separates two identical sets of chromosomes into newly dividing cells.

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,800+ scientific posters on ePosters
  • More Than 4,000+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Scientific News
High Throughput Mass Spectrometry-Based Screening Assay Trends
Dr John Comley provides an insight into HT MS-based screening with a focus on future user requirements and preferences.
How a Genetic Locus Protects Adult Blood-Forming Stem Cells
Mammalian imprinted Gtl2 protects adult hematopoietic stem cells by restricting metabolic activity in the cells' mitochondria.
Genetic Basis of Fatal Flu Side Effect Discovered
A group of people with fatal H1N1 flu died after their viral infections triggered a deadly hyperinflammatory disorder in susceptible individuals with gene mutations linked to the overactive immune response, according to a recent study.
New Tech Vastly Improves CRISPR/Cas9 Accuracy
A new CRISPR/Cas9 technology developed by scientists at UMass Medical School is precise enough to surgically edit DNA at nearly any genomic location, while avoiding potentially harmful off-target changes typically seen in standard CRISPR gene editing techniques.
The MaxSignal Colistin ELISA Test Kit from Bioo Scientific
Kit can help prevent the antibiotic apocalypse by keeping last resort drugs out of the food supply.
"Good" Mozzie Virus Might Hold Key to Fighting Human Disease
Australian scientists have discovered a new virus carried by one of the country’s most common pest mosquitoes.
Non-Disease Proteins Kill Brain Cells
Scientists at the forefront of cutting-edge research into neurodegenerative diseases such as Alzheimer’s and Parkinson’s have shown that the mere presence of protein aggregates may be as important as their form and identity in inducing cell death in brain tissue.
Closing the Loop on an HIV Escape Mechanism
Research team finds that protein motions regulate virus infectivity.
New Class of RNA Tumor Suppressors Identified
Two short, “housekeeping” RNA molecules block cancer growth by binding to an important cancer-associated protein called KRAS. More than a quarter of all human cancers are missing these RNAs.
Potential Treatment for Life-Threatening Viral Infections Revealed
The findings point to new therapies for Dengue, West Nile and Ebola.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos