The Knudson Two-Hit Hypothesis is the accepted common mechanism for transformation in patients with most familial cancer syndromes. A germline deleterious mutation in a tumor suppressor gene (TSG) increases the risk of developing specific malignancies. The gatekeeper event is loss of heterozygosity (LOH) or loss of expression of normal protein [ Read More ]
Now that new tests are changing the landscape of genetic testing, challenges are emerging in communicating results to patients, according to presenters at an education session on “Genetic Testing in 2015: Who Owns the Data, How Do You Return Results, and Other Clinical Dilemmas.†Multigene panels can now be offered [ Read More ]
Evidence from a case-control study implicates the number of activating killer-cell immunoglobulin-like receptor (KIR) genes in the risk of developing myelodysplastic syndrome (MDS) as well as being able to distinguish between high-risk and low-risk MDS once the disease is present. Specifically, patients with high-risk MDS had significantly lower numbers of [ Read More ]
In children with favorable-risk Wilms tumor, the presence of a rare genetic abnormality identifies children who can have a survival benefit from the augmentation or intensification of therapy. The abnormality—loss of heterozygosity on chromosomes 1p and 16q (LOH 1p, 16q)—is associated with worse prognosis in children with Wilms tumor. Two [ Read More ]
