Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

@article{Ni2008GermlineMA,
  title={Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.},
  author={Ying Hua Ni and Kevin M. Zbuk and Tammy Sadler and Attila Pat{\'o}cs and Glenn P. Lobo and Emily Edelman and Petra Platzer and Mohammed Orloff and Kristin A. Waite and Charis Eng},
  journal={American journal of human genetics},
  year={2008},
  volume={83 2},
  pages={
          261-8
        }
}
Individuals with PTEN mutations have Cowden syndrome (CS), associated with breast, thyroid, and endometrial neoplasias. Many more patients with features of CS, not meeting diagnostic criteria (termed CS-like), are evaluated by clinicians for CS-related cancer risk. Germline mutations in succinate dehydrogenase subunits SDHB-D cause pheochromocytoma-paraganglioma syndrome. One to five percent of SDHB/SDHD mutation carriers have renal cell or papillary thyroid carcinomas, which are also CS… CONTINUE READING

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