PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Breast cancer risk gene discovery fast tracked by new technology

2012-04-02
(Press-News.org) An international team of researchers led by the University of Melbourne has used new technology to fast track the discovery of a breast cancer risk gene and could assist in the discovery of other cancer genes.

Professor Melissa Southey of the Genetic Epidemiology Laboratory, Department of Pathology at the University of Melbourne, who led the study, said it was a significant discovery and the first breast cancer risk gene to be discovered using the latest genetic sequencing technology.

"The mutations in the newly identified gene XRCC2, although rare, explain another proportion of breast cancers that run in families where there is no known genetic cause and that particularly occur at an early age," she said.

"We identified this gene quite quickly using genetic technology called massively parallel sequencing, which enables sequencing of large amounts of human DNA at high speed.'

"Due to these results and our methodology we believe that further risk genes will be identified at a faster rate than before and potentially for other cancers such as colorectal and prostate cancers," she said.

Professor Southey said the discovery could help manage the risk of breast cancer for families with a strong history of the disease and no known genetic cause.

"This discovery will assist some families to determine individual risk and which family members are at high risk of contracting the disease," Professor Southey said.

"Unaffected relatives of people with a mutation in this gene could also be offered predictive testing, subsequent genetic counselling and ongoing clinical management on the basis of their mutation status.'

"People whose breast cancer is associated with XRCC2 mutations could also benefit from specific treatments that target the genetic fault," she said.

Currently, only about 30 per cent of the familial risk for breast cancer has been explained, leaving the substantial majority still unaccounted for.

"Research indicates that no single gene is likely to account for a large proportion of the remaining unexplained genetic susceptibility to breast cancer," Professor Southey said.

"Although mutations in XRCC2 are rare, it is most likely that the remaining unknown breast cancer susceptibility genes will account for similar small proportions of the disease."

Initially, using massively parallel sequencing, researchers identified XRCC2 mutations in two families (in Melbourne and the Netherlands). This was followed by a larger series of studies using DNA from blood samples of 689 families with multiple members affected by breast cancer, and from 1308 women who were affected at an early age by breast cancer and recruited from the general population, as well as 1120 controls. More XRCC2 mutations were detected in the breast cancer cases but not in the controls. These additional studies were conducted in Melbourne and at the International Agency for Research on Cancer (IARC) in France.

Co-first author Dr Daniel Park of the University's Department of Pathology (with Dr Fabienne Lesueur of IARC) said the study demonstrated the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases like breast cancer.

"Our study approach could be applied to many other common, complex diseases with components of unexplained heritability, such as colorectal and prostate cancers," he said.

Professor Southey oversaw this work with two long-standing collaborators and experts in the field of breast cancer genetics, Associate Professor Sean Tavtigian and Professor David Goldgar at the University of Utah.

###The research was conducted in a large collaborative network including researchers from the Huntsman Cancer Institute, The University of Utah, USA, The Breast Cancer Family Registry, Australia, the Victorian Life Sciences Computation Initiative, hosted by The University of Melbourne, The International Agency for Research on Cancer, France, The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer and The Cancer Council Victoria, Australia.

The work was supported by The Cancer Council Victoria, The National Institutes of Health (USA) and the National Health and Medical Research Council of Australia.

The study was published in the American Journal of Human Genetics today


ELSE PRESS RELEASES FROM THIS DATE:

Increasing water scarcity in California's Bay-Delta will necessitate trade-offs; 'hard decisions' needed to balance various environmental risks

2012-04-02
WASHINGTON — Simultaneously attaining a reliable water supply for California and protecting and rehabilitating its Bay-Delta ecosystem cannot be realized until better planning can identify how trade-offs between these two goals will be managed when water is limited, says a new report from the National Research Council. Recent efforts have been ineffective in meeting these goals because management is distributed among many agencies and organizations, which hinders development and implementation of an integrated, comprehensive plan. Additionally, it is impossible to restore ...

Patients with digestive disorders may receive high levels of X-ray radiation

2012-04-02
Patients with inflammatory bowel disease (IBD) and other gastrointestinal (GI) disorders may be exposed to significant doses of diagnostic radiation, according to a new study in Clinical Gastroenterology and Hepatology, the official journal of the American Gastroenterological Association. "Our results show that significant increases in radiation exposure in the last decade have paralleled the increased use of computed tomography imaging," said Alan N. Desmond, MB, BMedSc, MRCPI, of the Cork University Hospital, Ireland, and lead author of this study. "While cumulative ...

Ultrafast laser pulses shed light on elusive superconducting mechanism: U of British Columbia

2012-04-02
An international team that includes University of British Columbia physicists has used ultra-fast laser pulses to identify the microscopic interactions that drive high-temperature superconductivity. In the experiment, to be outlined this Friday in the journal Science, electrons in a prototypical copper-oxide superconductor were excited by extremely short 100-femtosecond (0.0000000000001-second) laser pulses. As the material's electrons relax back to an equilibrium state, they release their excess energy via deformation of the superconductor's atomic lattice (phonons) ...

UC San Diego physicists find patterns in new state of matter

2012-04-02
Physicists at the University of California, San Diego have discovered patterns which underlie the properties of a new state of matter. In a paper published in the March 29 issue of the journal Nature, the scientists describe the emergence of "spontaneous coherence," "spin textures" and "phase singularities" when excitons—the bound pairs of electrons and holes that determine the optical properties of semiconductors and enable them to function as novel optoelectronic devices—are cooled to near absolute zero. This cooling leads to the spontaneous production of a new coherent ...

MaxiAids Products for Independent Living Welcomes Barry Reiter as Director of Business Development

MaxiAids Products for Independent Living Welcomes Barry Reiter as Director of Business Development
2012-04-02
MaxiAids Products for Independent Living (www.MaxiAids.com), a leading supplier of products for the blind, low vision, deaf, hard of hearing and those with special needs, today announced the addition of Barry Reiter as director of business development. "We are happy to welcome Barry to the MaxiAids family," said Elliot Zaretsky, the company's president and founder. "His strong knowledge of the pharmaceutical industry is a perfect fit for our business and our goals." Mr. Reiter spent a majority of his career as chief operating officer of a major ...

Mom was right: It's what you know, not who you know

2012-04-02
Conventional wisdom tells us that in the business world, "you are who you know" — your social background and professional networks outweigh talent when it comes to career success. But according to a Tel Aviv University researcher, making the right connection only gets your foot in the door. Your future success is entirely up to you, says Prof. Yoav Ganzach of TAU's Recanati School of Management. When intelligence and socio-economic background (SEB) are pitted directly against one another, intelligence is a more accurate predictor of future career success, he asserts. ...

AGU journal highlights for March 29, 2012

2012-04-02
The following highlights summarize research papers that have been recently published in Geophysical Research Letters (GRL), Journal of Geophysical Research-Atmospheres (JGR-D), Journal of Geophysical Research-Planets (JGR- E), and Journal of Geophysical Research-Biogeosciences (JGR-G). In this release: Regional models expect drier, stormier western United States Declining sea ice to lead to cloudier Arctic Improving plume forecasts using Fukushima data How did the equatorial ridge on Saturn's moon Iapetus form? Thermokarst lakes increased atmospheric methane ...

US autism rates reach new high; N.C. figures higher than national average

2012-04-02
A new study estimates that 1 in 88 children in the United States has an autism spectrum disorder. The Centers for Disease Control and Prevention released a report Thursday (March 29) that looked at data gathered in 2008 from 14 communities, including central North Carolina. The new data show that autism rates in the U.S. are higher than previous estimates released in 2009, which found 1 in 110 children were diagnosed with autism or a related disorder. The latest figures also show that autism spectrum disorders are almost five times more common among boys than girls ...

New seismic hazard assessment for Central America

2012-04-02
A new study evaluates the seismic hazards for the entire Central America, including specific assessments for six capital cities, with the greatest hazard expected for Guatemala City and San Salvador, followed by Managua and San José, and notably lower in Tegucigalpa and Panamá City. The study, published in the April issue of the Bulletin of the Seismological Society of America (BSSA), included input from seismic hazard experts from Costa Rica, Guatemala, Honduras, Nicaragua, El Salvador, Panama, Norway and Spain. All seismic experts from Central American countries, except ...

Much faster than a speeding bullet, planets and stars escape the Milky Way

Much faster than a speeding bullet, planets and stars escape the Milky Way
2012-04-02
Idan Ginsburg, a graduate student in Dartmouth's Department of Physics and Astronomy, studies some of the fastest moving objects in the cosmos. When stars and their orbiting plants wander too close to the supermassive black hole at the center of the Milky Way, their encounter with the black hole's gravitational force can either capture them or eject them from the galaxy, like a slingshot, at millions of miles per hour. Although their origin remains a mystery and although they are invisible, black holes found at galaxy centers make their presence known through the effects ...

LAST 30 PRESS RELEASES:

Premenstrual symptoms linked to increased risk of cardiovascular disease

Newly discovered remains of ancient river landscapes control ice flow in East Antarctica

Newly discovered interstellar object 'may be oldest comet ever seen'

Animal-inspired AI robot learns to navigate unfamiliar terrain

Underserved youth less likely to visit emergency department for concussion in Ontario, study finds

‘Molecular shield’ placed in the nose may soon treat common hay fever trigger

Beetles under climate stress lay larger male eggs: Wolbachia infection drives adaptive reproduction strategy in response to rising temperature and CO₂

Groundbreaking quantum study puts wave-particle duality to work

Weekly injection could be life changing for Parkinson’s patients

Toxic metals linked to impaired growth in infants in Guatemala

Being consistently physically active in adulthood linked to 30–40% lower risk of death

Nerve pain drug gabapentin linked to increased dementia, cognitive impairment risks

Children’s social care involvement common to nearly third of UK mums who died during perinatal period

‘Support, not judgement’: Study explores links between children’s social care involvement and maternal deaths

Ethnic minority and poorer children more likely to die in intensive care

Major progress in fertility preservation after treatment for cancer of the lymphatic system

Fewer complications after additional ultrasound in pregnant women who feel less fetal movement

Environmental impact of common pesticides seriously underestimated

The Milky Way could be teeming with more satellite galaxies than previously thought

New study reveals surprising reproductive secrets of a cricket-hunting parasitoid fly

Media Tip Sheet: Symposia at ESA2025

NSF CAREER Award will power UVA engineer’s research to improve drug purification

Tiny parasitoid flies show how early-life competition shapes adult success

New coating for glass promises energy-saving windows

Green spaces boost children’s cognitive skills and strengthen family well-being

Ancient trees dying faster than expected in Eastern Oregon

Study findings help hone precision of proven CVD risk tool

Most patients with advanced melanoma who received pre-surgical immunotherapy remain alive and disease free four years later

Introducing BioEmu: A generative AI Model that enables high-speed and accurate prediction of protein structural ensembles

Replacing mutated microglia with healthy microglia halts progression of genetic neurological disease in mice and humans

[Press-News.org] Breast cancer risk gene discovery fast tracked by new technology