About My Health Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Mutations in the RINT1 Gene Associated With Early Onset Breast Cancer

by Bidita Debnath on October 28, 2013 at 7:27 PM
Font : A-A+

 Mutations in the RINT1 Gene Associated With Early Onset Breast Cancer

An international team of scientists has identified an association between heritable, rare mutations in the RINT1 gene and increased risk of early onset breast cancer.

This is according to research reported (Oct. 24) at the American Society of Human Genetics 2013 annual meeting in Boston.

Advertisement

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.
Advertisement

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.

The scientists' ASHG abstract is titled: "Rare mutations in RINT1 predispose carriers to early-onset breast cancer."

Source: Eurekalert
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
News Category
What's New on Medindia
Link between Dietary Intake of Plant-based Essential Fatty Acids and Death Risk
Aspirin may be Harmful When Used for Preventing 1st Heart Attack, Stroke
Pregnancy Complications Elevated Among Symptomatic COVID-19 Women
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
Women and Cancer DNA Finger Printing Breast Biopsy Pagets disease of the breast Mastitis Cancer and Homeopathy Breast Cancer Facts Cancer Facts Cancer Tattoos A Body Art 

Recommended Reading
Value and Limitations of Patient Assistance Programs for Women With Breast Cancer Found
Patient assistance programs can help breast cancer patients meet a variety of needs that can ......
New Drug Proves Effective in Drug-resistant Breast Cancer and Melanoma
LEE011 shows promising results in drug-resistant melanoma and drug-resistant breast cancer when ......
Different Anesthesia Techniques May Reduce Breast Cancer Recurrence
Breast cancer patients who received the combination of a nerve block with general anesthesia for ......
Scientists Discover Potential New Treatment for Triple-negative Breast Cancer
A novel method to treat 'triple-negative' breast cancer has been identified by scientists....
Breast Biopsy
Breast biopsy involves removing a sample of breast tissue to determine whether it is cancerous or .....
DNA Finger Printing
DNA fingerprinting is a technique which helps forensic scientists and legal experts solve crimes, id...
Mastitis
Mastitis is a common cause of tenderness, swelling and pain in breast, owing to inflammation in the ...
Pagets disease of the breast
A detailed description of the Paget's disease of the breast, characteristic signs and symptoms, dete...
Tattoos A Body Art
Tattoos are a rage among college students who sport it for the ‘cool dude’ or ‘cool babe’ look...
Women and Cancer
Cancer is one of the frequently talked about and most feared disease that falls under the genre of l...

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2021

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use