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Succinate Dehydrogenase Linked to Breast, Thyroid, Renal Cancer Predisposition PHILADELPHIA -- August 7, 2008 -- A new discovery may lead to more effective screening and treatment for patients with a difficult to recognise syndrome characterised by tumour-like growths and a high risk of developing specific cancers. The research, published in the August 7 issue of the American Journal of Human Genetics, is the first in over 13 years to identify an alternate susceptibility gene for Cowden syndrome (CS) and related disorders. "Other susceptibility genes for CS and CS-like phenotypes must exist," said lead study author Charis Eng, MD, Genomic Medicine Institute at the Cleveland Clinic, Cleveland, Ohio. Dr. Eng noticed that 1% to 5% of individuals with these rare tumours also had thyroid cancers similar to those observed in CS and CS-like patients. "We hypothesised that SDHx [a succinate dehydrogenase mutation] might represent susceptibility genes, other than PTEN [phosphatase and tensin homolog], for CS/CS-like syndromes," explains Dr. Eng. Dr. Eng and colleagues screened samples from CS/CS-like individuals who did not possess PTEN mutations for mitochondrial dysfunction. They identified a subset of patients with CS or CS-like syndrome who had various succinate dehydrogenase (SDH) mutations that were unrelated to PTEN mutations. Compared with individuals with CS/CS-like PTEN mutations, those with SDH mutations exhibited a consistently increased risk for breast, thyroid, and kidney cancers. Interestingly, in the absence of the PTEN alteration, CS/CS-like-related SDH mutations exhibited perturbations of cellular signalling pathways similar to those seen in PTEN dysfunction. "Our data have important implications for both patient care and genetic counselling. … Clinicians should consider SDH testing for PTEN mutation-negative, CS/CS-like individuals, especially if these individuals have a strong personal history and/or family history of breast, thyroid, or kidney cancer," said Dr. Eng. "In fact, patients with SDHx mutation should be more rigourously screened for these cancers compared to those with PTEN mutations." SOURCE: Cell Press E-mail this page to a friend or colleague! To print, use this version