A germline mutation of the KIF1Bβ gene on 1p36 in a family with neural and nonneural tumors

  title={A germline mutation of the KIF1Bβ gene on 1p36 in a family with neural and nonneural tumors},
  author={I-Tien Yeh and Romina Elizabeth Lenci and Yuejuan Qin and Kalyan Chakravarthy Buddavarapu and Azra Hadi Ligon and Emmanuelle A Leteurtre and Christine Do Cao and Catherine M Cardot-Bauters and Pascal Pigny and Patricia L M Dahia},
  journal={Human Genetics},
Recently, the KIF1Bβ gene on 1p36, a region commonly deleted in neural crest cancers, was found to be a proapoptotic factor for sympathetic precursors. KIF1Bβ mutations were detected in pheochromocytomas and neuroblastomas, two sympathetic lineage tumors, suggesting a role for this gene in cancer. Here, we studied five individuals from a three-generation cancer-prone family with a KIF1Bβ germline variant and seven of their tumors, both of neural crest and nonneural origin. Genetic studies… CONTINUE READING


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