About Careers MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

New Gene Linked To Breast Cancer Risk Identified

by VR Sreeraman on March 31, 2012 at 1:16 PM
Font : A-A+

 New Gene Linked To Breast Cancer Risk Identified

Mutations in a gene called XRCC2 may lead to increased breast cancer risk, according to a new study.

The study looked at families that have a history of the disease but do not have mutations in the currently known breast cancer susceptibility genes.

Advertisement

Sean Tavtigian, Ph.D., a Huntsman Cancer Institute (HCI) investigator and associate professor in the Department of Oncological Sciences at the University of Utah (U of U) is one of three co-principal investigators on the study, along with David Goldgar, Ph.D., professor in the Department of Dermatology at the U of U and an HCI investigator, and Melissa Southey, Ph.D., professor in the Department of Pathology at the University of Melbourne, Australia.

"We have added to the list of genes that harbour mutations causing breast cancer," said Sean Tavtigian, Ph.D., a Huntsman Cancer Institute (HCI) investigator and associate professor in the Department of Oncological Sciences at the University of Utah.
Advertisement

"This knowledge will improve breast cancer diagnostics and add years to patients' lives. More important, relatives who have not been affected by the disease but carry the mutations will benefit even more. They can find out they are at risk before they have cancer and take action to reduce their risk or catch the cancer early."

XRCC2 may also provide a new target for chemotherapy.

"A type of drug called a PARP inhibitor appears to kill tumor cells that have gene mutations in a particular DNA repair pathway. XRCC2 is in this pathway, as are BRCA1 and BRCA2."

It's reasonably likely that a breast cancer patient who has a mutation in XRCC2 will respond well to treatment with PARP inhibitors," said Tavtigian.

According to Tavtigian, many breast cancer cases appear in families with a weak history of the disease. Only about 30 percent of the familial risk for breast cancer can be explained by a combination of mutations to and common sequence variation in the known breast cancer susceptibility genes.

The researchers used a technology called exome capture massively parallel sequencing (exome sequencing), which shows the exact order of the nucleotides (the four building blocks of DNA) in all of the protein coding genes in the human genome.

The ability of this technology to analyze the DNA of all of the genes in the genome in a single experiment, according to Tavtigian, makes it an amazingly powerful tool for genetic research.

"We focused on the genes involved in a particular type of DNA repair, because most known breast cancer genes have been found there. That focused analysis allowed us to identify XRCC2 as a breast cancer susceptibility gene in individuals with a family history of breast cancer," said Tavtigian.

"From the exome sequencing data, we found two different types of XRCC2 mutations that occur in breast cancer patients."

He explained that one type of mutation causes the gene to create an incomplete version of the protein. The resulting protein is usually dysfunctional. The other type occurs when a single amino acid in the protein is changed.

"It's a subtle change to the protein, but the resulting change in function could range anywhere from innocuous to even worse dysfunction than the incomplete protein causes," said Tavtigian.

"Our sequence analyses suggest that we may have found the full spectrum of results in our study.

"A worldwide effort has already been launched to figure out what fraction of breast cancer is due to mutations in this gene and how high the risk conferred by these mutations actually is," Tavtigian added.

The study has been published in the American Journal of Human Genetics.

Source: ANI
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
What's New on Medindia
World AIDS Day 2022 - Equalize!
Test Your Knowledge on Sugar Intake and Oral Health
Test  Your Knowledge on Heart
View all
Recommended Reading
News Archive
Date
Category
Advertisement
News Category

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 

Most Popular on Medindia

Hearing Loss Calculator Blood Donation - Recipients Iron Intake Calculator Accident and Trauma Care Drug - Food Interactions Blood Pressure Calculator Sanatogen The Essence of Yoga Drug Side Effects Calculator Find a Doctor
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
×

New Gene Linked To Breast Cancer Risk Identified Personalised Printable Document (PDF)

Please complete this form and we'll send you a personalised information that is requested

You may use this for your own reference or forward it to your friends.

Please use the information prudently. If you are not a medical doctor please remember to consult your healthcare provider as this information is not a substitute for professional advice.

Name *

Email Address *

Country *

Areas of Interests