Corporate Banner
Satellite Banner
AgriGenomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

New Method Developed to Diagnose Hereditary Breast and Ovarian Cancer

Published: Wednesday, January 16, 2013
Last Updated: Wednesday, January 16, 2013
Bookmark and Share
Massive sequencing algorithm and bioinformatic analysis to detect very efficiently genetic mutations linked to the disease.

Researchers of the Catalan Institute of Oncology (ICO) at the Bellvitge Biomedical Research Institute (IDIBELL) have developed and validated a new method to diagnose hereditary breast and ovarian cancer syndrome based on mass sequencing of BRCA1 and BRCA2 genes. The model is based on a genetic analysis and bioinformatics which has been proved very effective. The new protocol has been described in an article published in the European Journal of Human Genetics.
 
In recent years, new advances in sequencing techniques have involved the development of new platforms for nucleic acid sequencing, called mass sequencing platforms or next sequencing generation. These technological improvements have brought a revolution in biomedical research, in the field of genetics and genomics. The emergence of next-generation sequencers and the possibility of combining samples from different patients, using identifiers have allowed adapt these new technologies in the field of genetic diagnostics.
 
Using a platform of the last generation mass sequencing, the team led by the researcher Conxi Lázaro, from the Hereditary Cancer Program at the ICO and IDIBELL, has developed a comprehensive protocol that allows sequenced all coding regions and adjacent regions of BRCA1 and BRCA2 genes, responsible for hereditary breast and ovarian cancer.
 
 Mass sequencing algorithm

 
"This approach has identified all point mutations and small deletions and insertions analyzed, even in regions of high technical difficulty, such as homopolymeric regions", explains the ICO-IDIBELL researcher. The developed protocol is an own algorithm of mass sequencing and bioinformatics analysis that has been shown to be very efficient in the detection of all existing mutations and to eliminate false positives.
 
The validation of this algorithm to diagnose hereditary breast and ovarian cancer syndrome has shown a sensitivity and specificity of 100% in the analyzed samples, while reducing costs and time for obtaining the results.
 
Furthermore, the research team led by Lázaro has implemented the use of this approach for the responsible genes for hereditary colorectal cancer, such as familial polyposis and Lynch syndrome.
 
Up to ten percent of cancers are hereditary, which means they are transmitted from parents to children the genetic mutations predisposing to various types of tumors. The identification of these mutations is very important to prevent the occurrence of tumors in people who have familial predisposition.
 
The hereditary breast and ovarian cancer syndrome is one of the hereditary cancer types that affects more people. The disease is caused by mutations in the BRCA1 and BRCA2 genes. These mutations are also associated with other kind of cancers.


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 3,200+ scientific posters on ePosters
  • More than 4,700+ 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
Open Source Seed Initiative – A Welcome Boost to Global Crop Breeding
A team of plant breeders, farmers, non-profit agencies, seed advocates, and policymakers have created the Open Source Seed Initiative.
Four Newly-Identified Genes Could Improve Rice
A Japanese research team have applied a method used in human genetic analysis to rice and rapidly discovered four new genes that are potentially significant for agriculture. These findings could influence crop breeding and help combat food shortages caused by a growing population.
“Amazing Protein Diversity” Discovered in Maize
The genome of the corn plant – or maize, as it’s called almost everywhere except the US – “is a lot more exciting” than scientists have previously believed. So says the lead scientist in a new effort to analyze and annotate the depth of the plant’s genetic resources.
Invasive Species Could Cause Billions in Agriculture Damages
Invasive insects and pathogens could be a multi-billion-dollar threat to global agriculture and developing countries may be the biggest target, according to a team of international researchers.
Genetic Research Can Significantly Improve Drug Development
With drug development costs topping $1.2bn (£850 million) to get a single treatment to the point it can be sold and used in the clinic, could genetic analysis save hundreds of millions of dollars?
What Makes a Good Scientist?
It’s the journey, not just the destination that counts as a scientist when conducting research.
Scoliosis Linked to Disruptions in Spinal Fluid Flow
A new study in zebrafish suggests that irregular fluid flow through the spinal column brought on by gene mutations is linked to a type of scoliosis that can affect humans during adolescence.
More Research Needed to Ensure Gene Drive Safety
Gene-Drive modified organisms are not ready to be released into environment a new report calls for more research and robust assessment.
Genetic Basis of Petunia Variation Uncovered
A large international team of researchers, including scientists from Wageningen University, have now sequenced the entire genome of two different wild petunia species, and published this in the important scientific journal Nature Plants.
Genetically Engineered Crops Are Safe
Distinction between genetic engineering and conventional plant breeding becoming less clear, says new report on GE crops.
Skyscraper Banner

SELECTBIO Market Reports
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
3,200+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!