Three new genetic links to breast cancer identified
Mammograms showing a normal breast (left) and a cancerous breast (right). Image: Wikipedia.
(Medical Xpress) -- An international team of researchers has identified three new genetic loci associated with an increased susceptibility to breast cancer. As described in their paper published in Nature Genetics, the three new loci will be added to the previous 22 that have been previously found and appear to be associated with mammary gland and bone growth and estrogen receptor signaling.
Breast cancer is the most common form of cancer in women; each year, approximately one million women are diagnosed with it and 400,000 die as a result. Research into its cause spans the globe as scientists continually strive to find out why it occurs so they can prevent it from happening. The team working on this latest breakthrough has twenty four identifiable members listed and many institutions spanning the globe. All told, people from over twenty two countries contributed.
To find the new genetic links, the research team studied the medical histories of 57,000 breast cancer patients and 58,000 genome profiles from women who had never had the disease. As part of their research, they focused on 72 specific single nucleotide polymorphisms (SNPs), which is where a base in the DNA is different than the base in the average case. Specifically, they looked at three SNPs in just a small group of chromosomes. It was there, on 12p11, that they found the three new links, in this case, variants in the chromosome.
The team’s research indicates that one variant that appears in 12p11 is linked to both estrogen receptor-positive and negative breast cancers and that one of the variants appears to be involved in the development of mammary glands and bone growth. This coincides with prior research that has shown that mammary growth in puberty plays a role in the development of breast cancer.
Unfortunately, the newly found genetic links likely play a role in the development of breast cancer in just 0.7 percent of such cases, which when added to the previous 22 links found still brings the total to just nine percent of all cases that have a known genetic link. This means the new results are more of an addition of information to a growing volume that when taken as a whole contribute to the expanding knowledge base.
It also, the authors point out, highlights just how complex cancer is and how difficult it will be to find a way to stop it from occurring in people in the future.
More information: Genome-wide association analysis identifies three new breast cancer susceptibility loci, Nature Genetics (2012) doi:10.1038/ng.1049
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10−35), 12q24 (rs1292011; P = 4.3 × 10−19) and 21q21 (rs2823093; P = 1.1 × 10−12). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
Journal reference: Nature Genetics
© 2011 PhysOrg.com
- Breast cancer type linked to paternal cancer Nov 28, 2011 | not rated yet | 0
- Researchers discover genetic variants modifying breast cancer risk Sep 19, 2010 | not rated yet | 0
- New 'knock-out' gene model provides molecular clues to breast cancer Sep 05, 2007 | not rated yet | 0
- First confirmed common genetic risk factors for breast cancer May 29, 2007 | not rated yet | 0
- Genetic 'hotspot' for breast cancer risk Feb 15, 2009 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011 I'd like to open a discussion thread for version 2 of the draft of my book ''Classical and Quantum Mechanics via Lie algebras'', available online at http://lanl.arxiv.org/abs/0810.1019 , and for the...
- More from Physics Forums - Independent Research
More news stories
Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.
Genetics May 22, 2013 | 4.5 / 5 (4) | 0 |
University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral ...
Genetics May 20, 2013 | 5 / 5 (1) | 0 |
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics May 16, 2013 | 3 / 5 (1) | 1 |
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of ...
Genetics May 16, 2013 | 5 / 5 (1) | 3 |
Ethicists provide framework supporting new recommendations on reporting incidental findings in gene sequencing
In a paper published in Science Express, a group of experts led by bioethicists in the Center for Medical Ethics and Health Policy at Baylor College of Medicine provide a framework for the new American College of Medical Geneti ...
Genetics May 16, 2013 | not rated yet | 0
Little is known about why asthma develops, how it constricts the airway or why response to treatments varies between patients. Now, a team of researchers at Weill Cornell Medical College, Columbia University Medical Center ...
8 minutes ago | not rated yet | 0 |
A new study determined that children and adolescents with seizures involving the temporal lobe are likely to have clinically significant behavioral problems and psychiatric illness, especially depression. Findings published ...
10 minutes ago | not rated yet | 0
A brief visual task can predict IQ, according to a new study. This surprisingly simple exercise measures the brain's unconscious ability to filter out visual movement. The study shows that individuals whose ...
1 hour ago | 4.7 / 5 (3) | 0 |
Gaucher disease causes debilitating and sometimes fatal neurodegeneration in early childhood. Recent studies have uncovered a link between the mutations responsible for Gaucher disease and an increased risk ...
1 hour ago | not rated yet | 0 |
As the human body fine-tunes its neurological wiring, nerve cells often must fix a faulty connection by amputating an axon—the "business end" of the neuron that sends electrical impulses to tissues or other ...
1 hour ago | 5 / 5 (1) | 0 |
Scientists have uncovered a survival mechanism that occurs in breast cells that have just turned premalignant-cells on the cusp between normalcy and cancers-which may lead to new methods of stopping tumors.
1 hour ago | not rated yet | 0 |