Genetic variants may affect the risk of breast cancer in women with BRCA2 mutations

October 28, 2010

An international study led by researchers at Memorial Sloan-Kettering Cancer Center has identified genetic variants in women with BRCA2 mutations that may increase or decrease their risk of developing breast cancer. The study was published today online in the open-access journal PLoS Genetics.

The findings of the study suggest that genetic variants on chromosomes 10 and 20 may modify risk for breast cancer among women with a BRCA2 mutation.

Researchers analyzed DNA samples from 6,272 women with BRCA2 mutations in a two-stage genome-wide association study. The chromosome 10 variant identified in the study, near the gene ZNF365, decreased the risk of breast cancer by approximately 25 percent in women also carrying a mutation of the BRCA2 gene. The current study and a recent report published in found that variants near the same gene, ZNF365, affect breast cancer risk in the general population. While BRCA2 mutations are rare, the ZNF365 variant is more common, seen in one in ten individuals. In addition, researchers found that other variants, including FGFR2, recognized to increase breast cancer risk in the general population, also served as risk modifiers for women with BRCA2 mutations.

"The risk of breast cancer associated with BRCA2 mutations varies widely. Our goal in this study was to test the hypothesis that common genetic variants may modify cancer risk in those already carrying 'high risk' mutations," said the study's senior author, Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering. "It's interesting that our study of BRCA2 and a companion study of BRCA1 both found that women with BRCA mutations likely have the same risk modifiers for breast cancer as women in the general population."

While the authors state that these findings do not have any immediate clinical implications, the discovery of these risk modifiers for women with BRCA2 mutations is important for further research into the role of genetic causes of .

Related Stories

Recommended for you

A math concept from the engineering world points to a way of making massive transcriptome studies more efficient

November 17, 2017
To most people, data compression refers to shrinking existing data—say from a song or picture's raw digital recording—by removing some data, but not so much as to render it unrecognizable (think MP3 or JPEG files). Now, ...

US scientists try first gene editing in the body

November 15, 2017
Scientists for the first time have tried editing a gene inside the body in a bold attempt to permanently change a person's DNA to try to cure a disease.

Genetic mutation in extended Amish family in Indiana protects against aging and increases longevity (Update)

November 15, 2017
The first genetic mutation that appears to protect against multiple aspects of biological aging in humans has been discovered in an extended family of Old Order Amish living in the vicinity of Berne, Indiana, report Northwestern ...

Genetic variant prompts cells to store fat, fueling obesity

November 13, 2017
Obesity is often attributed to a simple equation: People are eating too much and exercising too little. But evidence is growing that at least some of the weight gain that plagues modern humans is predetermined. New research ...

Discovering a protein's role in gene expression

November 10, 2017
Northwestern Medicine scientists have discovered that a protein called BRWD2/PHIP binds to histone lysine 4 (H3K4) methylation—a key molecular event that influences gene expression—and demonstrated that it does so via ...

Twin study finds genetics affects where children look, shaping mental development

November 9, 2017
A new study co-led by Indiana University that tracked the eye movement of twins finds that genetics plays a strong role in how people attend to their environment.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.