Tissue-bank shortage: Brain child

Asking parents to donate a child's brain to research is emotionally fraught. Some researchers say that it is time to put aside the taboos.

Alison Abbott

Illustration by Gracia Lam

David Amaral wanted to watch the young brain take shape. He thought that studying post-mortem brains under the microscope would help him to work out why children with autism often have abnormalities in the key structures that drive emotion and behaviour. But he soon found that existing brain banks couldn't give him what he needed. "It's just too hard to get high-quality tissue," he says. The banks may contain hundreds or even thousands of brains — but not from children, and not necessarily in the best condition.

Amaral, who is director of research at the MIND (Medical Investigation of Neurodevelopmental Disorders) Institute at the University of California, Davis, is not the only scientist eager for access to brains from children. The crucial stages of brain development span early fetal life through to the end of the teenage years; and destructive neurodevelopmental disorders such as autism and schizophrenia are thought to arise partly because of faulty connections laid down during this time. Many researchers want to apply new technologies, including increasingly sensitive molecular analyses and ever smarter microscopy, to developing brains to create a dynamic picture of what goes wrong.

When they succeed, the results can be breathtaking, says neuropathologist Joel Kleinman at the National Institute of Mental Health (NIMH) in Bethesda, Maryland. In work reported in this week's Nature¹

 

, he and his colleagues applied genomic technologies to 269 brains spanning the human lifetime and revealed an extraordinary wave of changes in gene expression that occur as the human brain develops. "It's like I witnessed the poetry of birth," he says.

But experiences such as Kleinman's are rare, owing to the challenges of collecting and storing children's brains. Parents must give permission shortly after their child has died, a time of inconsolable grief, and fetal brains are available only after an abortion — an incendiary political issue as well as an emotionally painful one for the women involved. Biomedical organizations have been tiptoeing around the delicacies for a decade or more.

The solution, according to Amaral, is not complicated. Outreach programmes could be aimed at the coroners who conduct autopsies as well as at the families of children with brain disorders. They could explain the research value of donated brains and encourage families to sign up to a donor registry. A network of brain-collection centres around the United States could ensure that brains are preserved quickly. And centralized governance of the banks could direct tissue from each donated brain towards as much high-quality research as possible. "All it needs is for someone to take ownership of the issue," Amaral says.

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That ownership may now be emerging from advocacy groups for neurodevelopmental disorders. "I know there has been a lot of talk and no action till now," says neuroscientist Robert Ring, vice-president of translational research at Autism Speaks, a research and advocacy organization based in New York. So Ring is pushing forward plans for a bank along the lines Amaral suggests. "Give us one year and we'll have developed a collaborative model with the scientific community," he says.

Only two major brain banks store brains from children or fetuses and distribute them to the research community at large. One is run by the National Institute of Child Health and Human Development (NICHD) and held at the University of Maryland School of Medicine in Baltimore; the other, called the Autism Tissue Program, is run by Autism Speaks and is hosted at the Harvard Brain Tissue Resource Center in Belmont, Massachusetts.

At most brain banks, including the NICHD's, personnel typically call the local coroner's office each morning. If a child is to be autopsied, they ask the office's permission to contact the family and request the brain for research. But the few coroner's offices involved can collect only a small amount of tissue. The Autism Tissue Program depends more on families that get in touch when they experience such a bereavement. Experts then go out to retrieve and prepare the brain. As the programme collects brains from across the United States, this often means a long journey. Ideally, though, the brain should be acquired quickly after death to minimize the breakdown of proteins and other molecules that researchers might wish to study. Other factors also influence tissue integrity, such as how soon after death a body is refrigerated and whether the person died slowly and painfully, as scientists have shown that this alters gene expression in the brain, making it less useful for research.

Collecting fetal brains is also hard. Brains from spontaneous abortions can't be used for research because the fetus has generally been dead for many hours before it is expelled. In fact, brains can be collected from abortions only when labour has been induced medically, because surgical procedures tend to damage the tissue.

Neither the NICHD bank nor the Autism Tissue Program bank — which together hold nearly 1,300 brains from people aged 19 and under — can meet the demand from researchers. Neuroscientist H. Ronald Zielke, director of the NICHD bank, says that he turns down 20% of requests for tissue because of a lack of material. In particular, this and other brain banks are running critically short — or have run out — of the brain areas that are the most interesting for research into developmental disorders, says Zielke. That includes the amygdala, which processes emotion, and the prefrontal cortex, which processes other cognitive and social behaviours. A brain bank, like any tissue repository, is also very expensive to run — the annual direct costs for the NICHD bank come to US$900,000.

To get around the shortage, some researchers have built up collections for their own use. Kleinman's research on gene expression drew on a collection that he heads at the NIMH. A similar study in this week's Nature²

 

, led by Nenad Šestan from the Yale University School of Medicine in New Haven, Connecticut, and with Kleinman as a co-author, drew in part on a collection that Šestan has generated at Yale. Their study showed the dramatic changes in gene expression that occur before and shortly after birth (see 'Brain waves'

 

). Neonatologist David Rowitch at the University of California, San Francisco, began a collection of brains at his hospital, which led to a paper published in last week's Nature3

 

 showing that the migration of 'progenitor' cells between two brain structures seen in infants slows down after the age of 18 months and has almost disappeared by adulthood. He began collecting brains in 2008 with the support of the Howard Hughes Medical Institute in Chevy Chase, Maryland, and now has more than 100, most of which are from very young babies.

These studies show how valuable such collections can be, but both Rowitch and Šestan describe the process of creating and running their own banks as "a big headache" because of the bureaucracy associated with handling human material. Šestan says that he would feel "much more comfortable" if the National Institutes of Health (NIH) were to run his collection. "It's a huge effort for a small group and the NIH could do something on a larger scale," he says.

Putting brains together

In fact, neuroscientists have been proposing for years that the NIH take a leading role in establishing a network of collection centres and standardizing methods for brain collection and preservation.

In July last year, Autism Speaks and the other major US foundation that funds autism work, the Simons Foundation in New York, made a formal proposal to the NIMH for a public–private partnership to collect brains from children with and without autism. The idea is that the advocacy groups would engage in intensive outreach efforts to potential donors, particularly families who have a child with autism, and the NIH would fund and manage the bank.

The NIH, though, has been slow to commit. Ring, who moved from the drug giant Pfizer to Autism Speaks in June this year and has the can-do air of someone used to industry deadlines, sees "a unique opportunity for the foundations to take on a leadership role". His organization and the Simons Foundation are now in discussions with scientists to get agreement on scientific standards for the bank. He says that multiple collection centres will help to overcome geographical logistics, shortening the time from death to collection, for example.

Thomas Insel, director of the NIMH, says that the NIH already supports 11 brain banks related to different neurological disorders, and would like to adopt "a rational overall strategy rather than simply adding another boutique brain bank to the list". He says that the NIH has now agreed in principle, at least, to create a 'neurobiobank' that would include both adult and children's brains. Although no firm plans have been released, the bank would probably have multiple collection points (the agency's existing tissue banks would become 'nodes'), but centralized oversight and tissue distribution. That is essentially what the advocacy groups want.

However the banks are organized, the agonizing task of approaching bereaved families will remain. Yet autism researcher Cynthia Schumann, who earlier this year became director of an effort by the MIND Institute to start a bank of its own, says that her first encounters with families who choose to donate were eye-opening. "I have been blown away by how parents have thanked us — for helping them to handle grief with the opportunity to give something back to help autism research," she says. Schumann, like counsellors at Autism Speaks, has also spent time educating affected families about autism research. "Parents often agree to sign up to a registry, and to encourage other families to sign up too," she says. So the reluctance to ask parents about acquiring their children's brains, she thinks, may be ill-founded.

That seems to be reflected in the experience of Valerie Hund, who donated the brain of her 16-year-old son, Grayson, to the MIND Institute after he died in January. Grayson had autism and epilepsy, and had died during a seizure. Hund says that a neighbour was a board member of the MIND Institute, and that her elder daughter had thought to call him shortly after Grayson died. The donation, says Hund, "helped me to cope through the process. I'm happy that Grayson is a pioneer in this."

Hund says she thinks that the institute's programme for raising awareness on brain and tissue banking is important. "It would have been easier for us if we had thought about donation in advance — but that is the last thing on your mind." 

See Editorial page 427

 

Alison Abbott is Nature's senior European correspondent.

References

1. Colantuoni, C. et al. Nature 478, 519-523 (2011). | Article
    
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2. Kang, H. J. et al. Nature 478, 483-489 (2011). | Article
    
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3. Sanai, N. et al. Nature 478, 382-386 (2011). | Article
    
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Source: Nature
http://www.nature.com/news/2011/111026/full/478442a.html?WT.ec_id=NEWS-20111101

 

 

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RAM

Women

Hippocampus plays bigger memory role than previously thought

 Neuroscience 

Human memory has historically defied precise scientific description, its biological

functions broadly but imperfectly defined in psychological terms. In a pair of papers published in the November 2 issue of TheJournal of Neuroscience, researchers at the University of California, San Diego report a new methodology that more deeply parses how and where certain types of memories are processed in the brain, and challenges earlier assumptions about the role of the hippocampus.

Specifically, Larry R. Squire, PhD, a Research Career scientist at the VA Medical Center, San Diego and professor of psychiatry, neurosciences, and psychology at UC San Diego, and Christine N. Smith, PhD, a project scientist, say that contrary to current thinking the hippocampus (a small seahorse-shaped structure located deep in the center of the brain and long associated with memory function) supports both recollection and familiarity memories when these memories are strong.

Recollection and familiarity memory are two components of recognition memory – the ability to identify an item as having been previously encountered. Recollection memory involves remembering specific details about a learning episode, such as where and when the episode occurred. Familiarity memory refers to remembering an item as previously encountered, but without any recall of specific details, such as recognizing someone's face but recalling nothing else about that person (For example, where you met the person.).

Prevailing research posits that recollection and familiarity memories involve different regions in the brain's medial temporal lobe: the hippocampus for recollection, the adjacent perirhinal cortex for familiarity.

"But given the connectivity in that part of the human brain, that separation seemed too clean, too neat," said Squire, a leading expert on the neurological bases of memory. "The idea of distinct functions was unlikely."

Recollection-based memories are typically associated with higher confidence and accuracy than familiarity-based decisions. Accordingly, in the past, comparisons between recollection and familiarity have also involved a comparison between strong memories and weak memories. So the question is how the brain accomplishes recollection and familiarity when the effect of memory strength is taken off the table.

Squire, Smith and John T. Wixted, PhD, professor of psychology and chair of the UC San Diego Department of Psychology, developed a novel method for assessing not just how recollection and familiarity memories are formed, but also their strength. The scientists combined functional magnetic resonance imaging of the brain with a test in which study participants looked at a series of words and judged on a 20-point confidence scale if each word had been studied earlier or not. If the word was deemed old (the upper half of the scale), participants were asked to decide if it was "remembered," which denotes recollection, "known," which denotes familiarity, or simply "guessed."

Not surprisingly, recollected items had a higher accuracy and confidence rating among participants than did familiar items. Previous studies have produced similar results. But when the UC San Diego scientists compared recollected and familiar items that were both strongly remembered, the data showed that the hippocampus was actively involved in both, contrary to earlier research.

The discovery peels away another layer of complexity in human memory, said Squire. "If we really want to know how the brain works, the best guide is to think of it in terms of neuroanatomy. Psychological descriptions got us started, but a fundamental map and understanding will require a deeper biological foundation."

In practical terms, Squire said, the findings may help in diagnosing and treating patients with memory problems. "If you have better constructs, you have a better way of knowing what's going on in a patient's brain. You can be more precise in your thinking about what's happening and what to do."

First-author Smith said their research may prompt other scientists to re-think some of their studies. "This was the first study to re-do earlier research with these controls. We hope it will encourage others to reassess the potential effect of strength of memory in studies of this kind."

In the second paper, Squire, with co-authors Zhuang Song, PhD, a postdoctoral researcher, and Annette Jeneson, a graduate student, used a novel combination of neuroimaging with other tests to also show that the hippocampus is related to encoding of familiarity-based item memories, not just recollection-based memories.

Provided by University of California - San Diego

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Robert Karl Stonjek

Exploring the science and nuance of facial perception

 Psychology & Psychiatry 

 

In class, Todorov shows students photos of Italian Prime Minister Silvio Berlusconi from 200, 100 and 50 meters away to demonstrate how distance and familiarity influence facial recognition.
Credit: Geoffrey Loftus

Professor Alexander Todorov showed the students in his freshman seminar a series of images of the same blurry face -- with the hint that it was a non-American political leader -- as it would appear from 200, 100 and 50 meters. At 50 meters, only one student figured out who it was -- Italian Prime Minister Silvio Berlusconi.

Todorov's next example illustrated how facial recognition can have serious consequences. He showed the students a photo of Darrell Edwards, a man who is currently fighting a 1999 murder conviction based in part on eyewitness testimony. Then Todorov demonstrated what Edwards would have looked like to the eyewitness who said she saw him the night of the murder from 271 feet (about 82 meters) away, without her prescription eyeglasses. The shocked students laughed at the blurry photograph.

"The jurors didn't have that reaction. They thought it was actually possible from this distance to identify a person," Todorov said. "The fact of the matter is, from this distance, you can't identify a person. You might be able to identify somebody who's a highly familiar person based on their gait and other things, but in this case an unfamiliar person, the eyewitness, didn't know who Darrell is."

Todorov, an associate professor of psychology and public affairs at Princeton University, uses a wide array of visual aids in his course "The Face: The Forces That Shape How We Perceive Others," which is being offered for the first time this fall. His 15 students are learning about humans' specialized mechanisms for processing, recognizing and socially assessing faces — as well as the biases that lead to errors in perception.

"My ambition is to make them excited about psychology and cognitive science. It's a specialized topic but has something for everybody," Todorov said, with applications from eyewitness testimony to electoral outcomes to Hollywood casting of "attractive" performers.

Freshman Miriam Pearsall had enjoyed her psychology class in high school and was drawn immediately to the seminar topic.

"I was especially attracted to the fact that face perception has such great relevance in understanding society and the world as a whole," Pearsall said. "I love that this freshman seminar allows me to voluntarily delve in the topic. Then I can discuss what I've learned with people who are just as interested in the topic as I am."

Todorov began the course, which is designated as the Shelly and Michael Kassen '76 Freshman Seminar in the Life Sciences, by explaining how the brain develops facial representations. Students learned about unique ways the brain processes faces unlike other objects almost from birth; the fact that it takes less than 50 milliseconds of glimpsing a face to extract informatino about its familiarity, age, sex, race and attractiveness; and parts of the brain such as the fusiform face area dedicated to face processing.

The class also visited the functional magnetic resonance imaging (fMRI) lab in Green Hall on campus where Todorov, with the help of a graduate student, demonstrated how brain scans are done, and students received a primer on analyzing the scans.

For Sarah Cuneo, the trip to the fMRI lab has been the highlight of the class up to this point.

"It was amazing to be able to see for ourselves all the techniques and results that we had been reading about for weeks — there's definitely a huge difference between understanding something in theory and seeing it in practice," Cuneo said.

The classroom discussions have also shed light on and enlivened some of the more technical material, she said.

"The small size of our freshman seminar gives the class an incredibly collaborative feel; we get to really engage our classmates in discussion, which means that we legitimately learn from each other," Cuneo said. "A lot of what we do in class is discussion of scientific journal articles, and it's great to have an active debate about the results. Different people in the class will offer several perspectives on the significance of any given study, and that means we get to examine a hypothesis from a variety of angles."

Todorov's lesson on eyewitnesses was meant to contrast sophisticated perception skills for familiar faces with the factors in play when observing unfamiliar faces. Scientists have not yet discovered why and how the processes for perceiving familiar and unfamiliar faces are so different.

In the same class as the discussion on Edwards, students picked out Michael Jordan, Bill Clinton and Jay Leno in a slide of blurry faces. Yet earlier, students had performed poorly on a hypothetical lineup. When they were asked to match the photo of a suspect to one of 10 mug shots, the students came to a consensus on one man and were surprised when Todorov told them that none of the 10 was the suspect.

"It makes sense that we would be less able to identify unfamiliar faces, but I didn't think we would be as bad as we were. We were really, really bad," Cuneo said.

Students suggested many factors and biases that could lead to a misidentification — witnesses may be agitated or motivated to find a culprit, or they may compare the faces in the lineup to each other rather than their own memory, or expect some variation between their memory and the lineup, among other factors.

"We can use these insights for better police procedures for not arresting innocent people," Todorov said, adding that New Jersey is one of the states that changed its lineup procedures to reflect research in this area and remove some sources of bias. "The point is not to dismiss this sort of evidence but to look at it with a critical eye."

In his own lab, Todorov studies the social perceptions of faces, and he will focus on related issues for the rest of the semester. Some discussion topics include how people perceive emotional expressions, how people form first impressions, how they assess personality traits such as trustworthiness, and what makes a face attractive.

"It's great to explain the basic concepts, and I also learn from teaching them," Todorov said. "I don't really want the students to be face experts, but if they get excited about the right way to do an experiment, how to test a theory, how to rule out alternative explanations and get excited about psychology, that's great."

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Why near-death events are tricks of mind

Psychology & Psychiatry 

Near-death experiences are not paranormal but triggered by a change in normal brain function, according to researchers.

Psychologists who reviewed a range of phenomena such as out-of-body experiences, visions of tunnels of light or encounters with dead relatives, say they are tricks of the mind rather than a glimpse of the afterlife.

Researchers at the Universities of Edinburgh and Cambridge say that most of the experiences can be explained by a reaction in the brain prompted by a traumatic and sometimes harmless event.

The researchers say that many common near-death experiences could be caused by the brain’s attempt to make sense of unusual sensations and perceptions occurring during a traumatic event.

Out-of-body experiences, for example, may happen when there is a breakdown in the brain’s multi-sensory processes, and visions of tunnels and bright lights could stem from a breakdown in the brain’s visual system caused by oxygen deprivation.

The new study also points to the effects of noradrenaline, a hormone released by the mid-brain which, when triggered, may evoke positive emotions, hallucinations and other features of the near-death experience.

Approximately three per cent of the US population say they have had a near-death experience, according to a Gallup poll. Near-death experiences are reported across cultures and can be found in literature dating back to ancient Greece.

"Some of the studies we examined show that many of the people experiencing a near-death experience were not actually in danger of dying, although most thought they were. The scientific evidence suggests that all aspects of the near-death experience have a biological basis," said Caroline Watt, School of Philosophy, Psychology and Language Sciences.

The research is published in the Journal Trends in Cognitive Sciences.

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Study says a woman's walk reflects her vaginal orgasmic history

Stuart Brody of the University of the West of Scotland, working with other colleagues in Belgium, has done a study on the relationship between a woman's gait and the history of her vaginal orgasms.

The researchers now claim they can tell the history of woman's vaginal orgasm from only observing the way she walks.

According to NewsCommando.com

 

, the study was published in The Journal of Sexual Medicine of the International Society of Sexual Medicine and the Society for Study of Women's Sexual Health. 16 female subjects, all Belgian university students, were used in the study.

The subjects were videotaped from a distance while walking, and were asked to complete a questionnaire. The researchers then had the videotapes of the women's gait assessed by two professors of sexology and two research assistants with training in "functional-sexological approach to sexology." The sexologists chosen to assess the video tapes had no prior knowledge of the orgasmic history of the women whose gait video tapes they were assessing.

The results showed a trained sexologist could tell the history of vaginal orgasm of the subjects from their gaits, 80 percent of the time. The study also showed the sum of stride length and vertebral rotation of a woman in motion was higher for "vaginally orgasmic women."

According to Science Daily, the researchers concluded there were several possible explanations of the result, one being that a woman's anatomical features may predispose her to experience vaginal orgasm. Stuart Brody explained:

"Blocked pelvic muscles, which might be associated with psychosexual impairments, could impair vaginal orgasmic response and gait."

 

Stuart Brody also explained that the result could:

"...reflect the free, unblocked energetic flow from the legs through the pelvis to the spine...Besides, vaginally orgasmic women may feel more confident about their sexuality, which might be reflected in their gait...Such confidence might also be related to the relationship(s) that a woman has had, given the finding that specifically penile-vaginal orgasm is associated with indices of better relationship quality."

Science Daily quotes Irwin Goldstein, Editor-in-Chief of The Journal of Sexual Medicine, commenting on the significance of findings of the study:

"Women with orgasmic dysfunction should be treated in a multidisciplinary manner...Although small, this study highlights the potential for multiple therapies such as expressive arts therapy incorporating movement and physical therapy focusing on the pelvic floor."

The researchers said the study results provided evidence in support of the belief there is a link between muscle blocks and sexual function in women. They said the study result may support the inclusion of "training in movement, studbreathing and muscle patterns into the treatment of sexual dysfunction."

The research study, according to Physorg.com, also found a link between vaginal orgasm and mental health.

Laura Bermann, writing in Chicago Sun-Times

 

, raises an interesting question on the relationship between a woman's gait and sexual function with the question: Which came first, a woman’s sensual, free walk, or her habit of reaching vaginal orgasm?

She states her opinion 

 

on the question:

"I think the former. A woman who walks with confidence, ease and a bit of sex appeal is likely more in tune with her sexual needs and her body, meaning that reaching vaginal orgasm is easier for her than for someone who might be more self-conscious and inhibited as she walks down the street. A woman who isn’t comfortable in her own skin outside the bedroom isn’t likely to be comfortable in the bedroom. She will likely be more inhibited and disassociated from her physical sensations during sex, all of which will complicate the process of attaining vaginal orgasm (which is notoriously harder to reach than clitoral orgasm for most women)."

 

Source: Digital Journal
http://www.digitaljournal.com/article/313408

 

 

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Babies understand thought process of others at 10 months old, research finds

 Psychology & Psychiatry 

New research from the University of Missouri indicates that at 10 months, babies start to understand another person's thought process, providing new insights on how humans acquire knowledge and how communication develops.

"Understanding other people is a key factor in successful communication, and humans start to understand this at a very young age," said Yuyan Luo, associate professor of developmental psychology in the MU College of Arts and Science. "Our study indicates that infants, even before they can verbally communicate, can understand the thought processes of other people – even if the thoughts diverge from what the infants know as truth, a term psychologists call false belief."

During the study, infants were monitored during different trials of a common psychological test in which an actor indicated preference for certain objects. Researchers timed the infant's gaze, which is an indication of infant knowledge. The infants watched longer when the actor's preferences changed. This led the researchers to believe that infants understood how the actor interacted with the objects.

"When the actor did not witness the removal or addition of the preferred object, the infants seemed to use that information to interpret the person's actions," Luo said. "The infants appear to recognize that the actor's behavior comes from what the actor could see or could not see and hence what the actor thinks, and this finding is consistent with similar false belief studies that involve older children."

Luo said her study is one of the first to explore the false belief understanding in the first year of life; evidence from other studies indicates that infant understanding could be present at an earlier age. As the research moves forward, Luo expects to find more understanding of how humans learn to communicate.

"In adults, beliefs guide behavior, but it would be difficult to explain another person's behavior without explaining his or her mental state," Luo said.

The study, "Do 10-month-old infants understand others' false beliefs?" is published in the journal Cognition.

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FIVE WAYS TO BECOME A LEADER

Having leadership skills are important in every aspect of your life, but especially in the workplace. Being a leader will show that you are able to take on bigger positions and projects and eventually lead to a higher salary. Get the list of ways to achieve this success here!

Career Success for Newbies shares…

1. Integrity
Leaders have high ethics. They are honest. If you are to gain people’s trust then it is important to learn this trait early. Some of the actual situations you can practice this behavior is taking responsibility for your own actions. Do not play the blame game when things go wrong. Leaders take personal responsibility for their team’s actions and results.

2. Passionate
Leaders are passionate. They are enthusiastic about their work and they even have the ability to rub this energy off on their followers. Do you take on assignments given to you enthusiastically? This is one good behavior to start when developing leadership skills.

3. Commitment
When developing leadership skills, look at the easiest to start. Commitment to your work is one of the easiest. Can you truly say you are willing to work hard at the job assigned? Leaders work hard and have a strong discipline in following through with their work.

4. Courageous
If people are to follow you then as a leader you need to be courageous. Leaders are brave when they confront risks and the unknown. The ultimate test of a leader’s courage is also the courage to be open. When looking at developing leadership skills, do you have the courage to speak up on things that matter?

5. Goal Oriented
Leaders are very focused on the objectives that need to be attained. They develop a plan and strategy to achieve the objectives. In addition, they will also need to build commitment from the team and rally them to achieve the organization’s goal. When developing leadership skills, start by looking at how goal oriented you are now. Improve upon that behavior.

Get more great tips from Career Success for Newbies!

Breast cancer risk ‘not equal’

THE UNIVERSITY OF MELBOURNE

Women who do not have a genetic mutation, but are closely related to women who do have an average risk of developing the disease. Image: hidesyiStockphoto Mothers, sisters and daughters from breast cancer families with known genetic mutations do not all share the same high risk of developing the disease, according to a new international study involving the University of Melbourne. Women with the breast cancer genetic mutations BRCA1 or BRCA2 are at least 10 times more likely to develop breast cancer than the average woman. The new study found that women who do not have a genetic mutation, but are closely related to women who do have genetic mutations are at an average risk of developing the disease.   Professor John Hopper from the School of Population Health, University of Melbourne, who led the Australian component of the study, said some women in this scenario were worrying unnecessarily. “Our study revealed that these women have an average risk of developing the disease as opposed to the high risk of their mutation-carrying close relatives and hence do not need to worry unnecessarily and over screen to detect the disease,” he said. “These findings go against a 2007 clinic-based study in the UK which claimed that all women in breast cancer families with known genetic mutations are at increased risk of developing the disease even if they don’t carry the family-specific mutation,” he said.  “Our results revealed there was no evidence of increased breast cancer risk for non-carriers of the genetic mutations, certainly not the five-fold increased risk suggested by the authors of the 2007 study.” The international study is the largest analysis to date of breast cancer risk for non-carriers of family specific breast cancer mutations. It was led by Professor Alice Whittemore from Stanford University School of Medicine, USA and was published today in the Journal of Clinical Oncology. More than 3000 breast cancer families from the population at large were analysed for their genetic risk of the disease. Researchers compared the risk of breast cancer among first-degree relatives of breast cancer patients who did and did not carry a BRCA1 or BRCA2 mutation. Women were recruited from an international consortium, the Breast Cancer Family Registry, which used population cancer registries in USA, Australia and Canada. The Australian component involved the Australian Breast Cancer Family Registry, led by Professor John Hopper. Professor Hopper said genetic testing could help to clarify which women are at high or average risk. “Genetic testing will give women a clearer indication of their real risk level and hence clarify what they could or should not do to reduce their risks of developing beast cancer,” he said. Women who think they might be at increased risk for breast cancer due to a strong family history of the disease can attend Family Cancer Clinics around Australia for genetic testing. Editor's Note: Original news release can be found here.