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Together, the disorders caused by PTEN mutations are called PTEN hamartoma tumor syndromes, or PHTS. Mutations responsible for these syndromes cause the resulting protein to be non-functional or absent. The defective protein allows the cell to divide in an uncontrolled way and prevents damaged cells from dying, which can lead to the growth of ...
Blocking the differentiation of germinal center B cells is dangerous because the cells are programmed to divide rapidly at this stage. The SHM that occurs in the germinal center can also target non-immunoglobulin loci and may be responsible for translocation of the BCL-6 gene.
Specifically, it has an important role in tumorigenesis in PTEN-negative cancers. [15] It's reported that interfering with the gene for PI3Kb might be a therapeutic approach for high-risk bladder cancers with mutant PTEN and E-cadherin loss. Specific isoform inhibitors to PI3Kb is a potential treatment for PTEN-deficient cancers. [16]
Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. [1]
Li-Fraumeni syndrome is caused by a gene alteration on the gene TP53. Cancer types associated with a mutation on this gene include breast cancer, soft tissue sarcoma, osteosarcoma (bone cancer), leukemia and brain tumors. In the Cowden syndrome there is a mutation on the PTEN gene, causing potential breast, thyroid or endometrial cancer. [20]
It is known for being the first site approved to use cell-based gene therapy to treat patients with certain types of large B-cell lymphoma who have not responded or relapsed after at least two other kinds of treatment; it initiated the first CAR T-cell therapy clinical trials and is a member of the NCI-approved Georgetown Lombardi Comprehensive ...
Prothrombin G20210A is a genotypic trait that provides a prompter coagulation response. It increases the risk of blood clots including from deep vein thrombosis, and of pulmonary embolism. [1]
Eng was also involved in discovering a link between PTEN and autism, one of the first associations between the latter condition and inherited cancer syndromes. [ 16 ] Her scientific accomplishments have set the practice model for how to apply laboratory-based genetics and genomics in the pre-symptomatic diagnosis, counseling and management of ...