A new hereditary breast cancer gene has been discovered by scientists at the Lundberg Laboratory for Cancer Research and the Plastic Surgery Clinic at the Sahlgrenska Academy in Sweden. The researchers found that women with a certain hereditary deformity syndrome run a nearly twenty times higher risk of contracting breast cancer than expected.
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 Göran Stenman.
By detailed mapping of families with Saethre-Chotzen syndrome, the Göteborg 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 Göran 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.
Source: Swedish Research Council
Related stories:
Beyond PTEN: Alternate genes linked to breast, thyroid and kidney cancer predisposition
A new discovery may lead to more effective screening and treatment for patients with a difficult to recognize syndrome characterized by tumor-like growths and a high risk of developing specific cancers. The research, published by Cell Press in the August 7 issue of the
American Journal of Human Genetics, is the first in over thirteen years to identify an alternate susceptibility gene for Cowden syndrome (CS) and related disorders.
Exercise pill is no replacement for exercise
Recently, researchers at the Salk Institute for Biological Studies, a research organization focused on biology and its relation to health,
published a study in the journal
Cell on the results of a substance that increased exercise endurance without daily exertion when tested in mice. Media reports have described this substance as an "exercise pill," potentially eliminating the need for exercise.
Study shows that chronic grief activates pleasure areas of the brain
Findings could change how health professionals treat the disorder
Grief is universal, and most of us will probably experience the pain grief brings at some point in our lives, usually with the death of a loved one. In time, we move on, accepting the loss.
Diabetes drug slows early-onset puberty in girls
In young girls at risk of early puberty and insulin resistance, the diabetes drug metformin delayed the onset of menstruation and decreased the development of insulin resistance, a risk factor for type 2 diabetes, according to a new study. The results were presented Monday, June 16, at The Endocrine Society's 90th Annual Meeting in San Francisco.
Glypican-3 gene function in regulating body size helps inform novel cancer treatments
In a leading study that has implications for the development of novel therapies for a number of breast, lung and ovarian cancers that have lost the expression of a gene called glypican-3 (GPC3), Sunnybrook researchers have discovered how the loss of the GPC3 gene induces overgrowth through certain growth factors such as Sonic Hedgehog which stimulate cancer growth.
Chemotherapy causes delayed severe neural damage
A commonly used chemotherapy drug causes healthy brain cells to die off long after treatment has ended and may be one of the underlying biological causes of the cognitive side effects – or “chemo brain” – that many cancer patients experience. That is the conclusion of a study published today in the
Journal of Biology.
Lombardi Comprehensive Cancer Center publishes manual for childhood cancer survivors
With more than 270,000 childhood cancer survivors living in the United States, researchers have turned their attention to the effects of cancer treatment that can occur years after therapy, called late effects. At the Lombardi Comprehensive Cancer Center and Georgetown University Hospital, a team of oncologists, nurses, social workers and an art therapist have created the first survivorship manual, tailored for each child treated for cancer. The Next Step… Crossing the Bridge to Survivorship is an educational guide designed to provide specific information related to long-term follow-up and survivorship.
Scans spot hidden tumors in rare cancer syndrome
Researchers at Dana-Farber Cancer Institute report that full-body PET/CT scanning detected unsuspected, treatable tumors in 3 of 15 patients with Li-Fraumeni syndrome (LFS), a rare genetic cancer syndrome for which no screening tests have been recommended.