A mutated tumor suppressor gene has been identified as the cause of familial juvenile polyposis, a disorder affecting about 1 in 100,000 people. The discovery may provide insights into colorectal cancer diagnosis and treatment.
Researchers at UNC-CH and Washington University found that only 3.3% of white patients carry the BRCA1 mutation, significantly lower than previous estimates. The study suggests that widespread screening is not warranted due to high costs and limited interpretability.
Scientists have mapped a defective gene responsible for hereditary amyotrophic lateral sclerosis (ALS) to chromosome 9, bringing closer the isolation of the gene and potential treatment options. The gene is suspected to be linked to similar neurodegenerative disorders, with symptoms appearing in childhood but never being fatal.
Researchers at Ohio State University have identified a new category of tumor suppressor genes associated with Peutz-Jeghers syndrome, a rare inherited disorder. The study found that the PJS gene produces a protein kinase enzyme, which is not produced in cancer-causing scenarios.
Researchers at the University of Pennsylvania School of Medicine have identified a molecular target of action for BRCA1, which induces the cell cycle inhibitor p21. This finding suggests potential strategies for treating breast and ovarian cancers, including screening drug compounds to activate p21.
Researchers at Oak Ridge National Laboratory use ORNL mice to study human cancers, identifying genetic causes and potential treatments. By comparing mouse genes to human genes, scientists hope to gain a better understanding of cancer development and improve diagnosis and treatment strategies.
Researchers at Penn State have discovered a new gene called KiSS-1 that suppresses the metastasis of melanoma in laboratory mice. The gene, located on chromosome 1, reduces the spread of melanoma by at least 50 percent of the time and may be the most potent gene to block or suppress metastasis in human cancer.
An international team of scientists has identified the gene responsible for anhidrotic ectodermal dysplasia (EDA), a condition affecting the development of skin, hair, and teeth. The discovery provides a molecular marker to identify female carriers and is a step towards developing therapeutic interventions.
Researchers at Duke University and the Institute for Cancer Research have located a second breast cancer susceptibility gene, BRCA2. This gene is expected to account for most of the remaining 50% of inherited breast cancers not caused by BRCA1. Women who inherit BRCA2 are at an 85% risk of developing breast cancer.