About My Health Careers Internship MedBlogs Contact us

Insights on New Genetic Marker of Hereditary Colon Cancer

by Bidita Debnath on October 11, 2017 at 11:52 PM
Font : A-A+

 Insights on New Genetic Marker of Hereditary Colon Cancer

Colorectal cancer is the third leading cause of cancer in both men and women in the U.S. Many people with colon cancer experience no symptoms in the early stages of the disease.

Researchers from the Hereditary Cancer group of the Oncobell Program of the Bellvitge Biomedical Research Institute (IDIBELL) - Hereditary Cancer Program of the Catalan Institute of Oncology (ICO) have found a new genetic marker that would explain up to 1.4% of those inherited colon cancer cases not related to the mutations currently associated with this disease.


This finding, made possible by the new techniques of genetic sequencing, was the result of collaboration among several other research groups at national and international level.

"Our group primarily focuses on genetic markers of hereditary colon cancer," said Dr. Laura Valle, lead author of the study. "In recent years, we have sequenced the exome - all genes - from high-risk families with several members affected by colon cancer but who do not have the genetic mutations currently associated with this disease. The aim is to identify the altered genes that cause the aggregation of cancer in these families. If we do so, mutation carriers can enter into personalized follow-up programs to detect early onset of cancer, and even prevent it."

As for the work published by the journal Gastroenterology, the researchers singled out the BRF1 gene as a family colon cancer gene. "This gene has been mutated in tumors but has never been associated with cancer risk", says Dr. Valle. Sequencing of this gene in more than 500 samples from families with familial cancer aggregation but without alterations in normal high risk genes revealed 11 new rare gene variants. After several functional studies, the researchers concluded that 7 of the 11 variants could be related to the increased risk of developing cancer in carrier families.

Thus, 1.4% of cases of hereditary colon cancer could be explained by alterations in the BRF1 gene. "It's a low percentage," admits the IDIBELL researcher, "but we have reached a point where the "big genes" responsible for hereditary cancer have already been discovered. We only have "minor genes" to unveil, but obviously the impact for those affected is still enormous".

The finding, once validated by other research groups, could allow patients with mutations in this gene to follow a clinical approach much more consistent with their genetics. "In that sense, we keep working on the identification of genetic mutations and other types of not-so-conventional alterations that allow us to explain how many more cases of hereditary cancer," concludes Valle.

Source: Eurekalert

News A-Z
News Category
What's New on Medindia
International Day of Persons with Disabilities 2021 - Fighting for Rights in the Post-COVID Era
Effect of Blood Group Type on COVID-19 Risk and Severity
Woman with Rare Spinal Cord Defect from Birth Sues Doctor
View all

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

More News on:
Cancer and Homeopathy Genetics and Stem Cells Colo-rectal cancer - Management Colorectal Cancer Cancer Facts Cancer Tattoos A Body Art Colon Crohns Disease Diverticulosis and Diverticulitis 

Recommended Reading
Chemotherapy may Increase Survival for Stage III Colon Cancer Patients with Dementia
Forgoing chemotherapy linked to worse survival in among patients 65 and older with advanced colon ....
Novel Treatment Strategy Found for Colon Cancer Patients
Due to advances in screening techniques and improvements in treatments, the death rate from ......
Role of Probiotics in the Prevention and Treatment of Colon Cancer
Alteration of the gut microbiome with probiotics may become a new preventative or therapeutic ......
Potential Silver Bullet Uncovered to Prevent and Treat Colon Cancer
CtBP can cause normal human cells to become cancerous when inserted into the cell's DNA....
Colo-rectal cancer - Management
Treatment for Colorectal Cancers may involve surgery,chemotherapy, radiation therapy or biological t...
Colorectal Cancer
Colorectal cancer is a cancer that starts in the colon or the rectum. Colorectal cancer is the third...
Crohns Disease
Crohn’s disease or regional enteritis is an inflammatory bowel disease that involves the small intes...
Diverticulosis and Diverticulitis
Diverticulosis is characterized by sac-like outpouching in the intestinal wall. Inflammation of div...
Tattoos A Body Art
Tattoos are a rage among college students who sport it for the ‘cool dude’ or ‘cool babe’ look...

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