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

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

Join For Free

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 3,300+ scientific posters on ePosters
  • More Than 4,900+ 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 TechnologyNetworks.com 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
Liquid Biopsies: Miracle Diagnostic or Next New Fad?
Thanks to the development of highly specific gene-amplification and sequencing technologies liquid biopsies access more biomarkers relevant to more cancers than ever before.
JPK NanoWizard® Applied to a Wide Range of Research
The NanoWizard® AFM from JPK is applied for interdisciplinary research at the University of South Australia for applications including smart wound healing and how plants can protect themselves from toxins.
Mutations in DNA-Repair Genes Found in Advanced Prostate Cancers
New findings indicate that nearly 12% of male advanced prostate cancer sufferers have inherited mutation in DNA-repair genes.
Protein Boosts Rice Yield by 54%
Over-expression of a natural protein in rice plants led to a 54% increase in crop yield and 40% increase in nitrogen-use efficiency.
Ice Bucket Challenge Instrumental in Gene Discovery
Donations from the ALS Ice Bucket Chellenge allowed for the largest-ever study of inherited ALS, which identified a new ALS gene.
Genetic Variability in Cell Bank Lots
Researchers working with cancer cells from the same cell bank acquired at the same time, found that the cells were genetically different.
Triple-Action Therapy Patch Shows Promise
Patch that delivers drug, gene, and light-based therapy to tumor sites shows promising results in mice.
Soil Nitrogen Age Important for Precision Agriculture
Calculating the age of nitrogen in corn and soybean fields could lead to improved fertilizer application techniques.
Targeting Autoimmunity
Researchers have developed a strategy to treat a rare autoimmune disease which could lead to treatments of other autoimmune diseases.
Molecule May Affect Gaucher, Parkinson's Disease
Research has identified a molecule that restores activity of a dysfunctional enzyme linked to Gaucher and Parkinson's disease.
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
3,300+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,900+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!