Donnie B’Oris
1) New hereditary breast cancer gene discovered
Several research teams around the world have long been searching for new
hereditary breast cancer genes, but thus far few have been found.
"Our findings are extremely important, providing new knowledge of hereditary
cancer genes and how they can cause breast cancer. The discovery also makes
it possible to uncover breast cancer in women who have a predisposition for
Saethre-Chotzen malformation syndrome," says G? Stenman.
By detailed mapping of families with Saethre-Chotzen syndrome, the G?org
scientists have now found that women with this syndrome have an elevated risk
of contracting breast cancer. Saethre-Chotzen is a syndrome that primarily
involves malformations of the skull, face, hands, and feet. The syndrome is
caused by mutations in a gene called TWIST1.
"Our findings show that women with this syndrome run a nearly twenty times
greater risk of contracting breast cancer than expected. Moreover, many of the
women were young when they were affected by breast cancer," says G?
Stenman.
The findings of the study show that women with this syndrome should be receive
early mammograms in order to discover breast cancer at an early stage.
"We have already started to use this new knowledge in our work with patients
and now recommend regular mammograms for young women with this
syndrome. Several early cases of breast cancer have already been uncovered
with mammography," says Pelle Sahlin, chief physician at the Plastic Surgery
Clinic.
The scientists are now going to perform various experiments to chart the
mechanism of how TWIST1 increases the risk of breast cancer. Studies are also
under way to find out what proportion of cases of hereditary breast cancer are
caused by mutations in the TWIST1 gene.
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Swedish Research Council
2) Young children with epilepsy seizures could benefit from animal model
of disease
Infantile spasms are a specific type of epilepsy seizure seen in infancy and early
childhood. The disorder involves a sudden bending forward and stiffening of the
body, arms, and legs. The seizures typically last one to five seconds and occur in
clusters, ranging from two to 100 spasms at a time. There are few available
treatments.
In two studies, the authors report developing a mouse model of infantile spasms
that produces effects closely resembling human infantile spasms. The mouse
model also responded to current treatments, including adrenocorticotrophic
hormone (ACTH), in a similar manner.

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- Spring '11
- Ginn
- heart transplant patients, organ allocation, hereditary breast cancer
-
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