Article
Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.
The Journal of clinical endocrinology and metabolism - 1 Jun 2014
Araujo Aline N, Moraes Lais, França Maria Inez C, Hakonarson Hakon, Li Jin, Pellegrino Renata, Maciel Rui M B, Cerutti Janete M
Abstract excerpt
CONTEXT: Our group described a p.G533C RET gene mutation in a large family with multiple endocrine neoplasia type 2 syndrome. Clinical heterogeneity, primarily associated with the presence of lymph node metastases, was observed among the p.G533C carriers. OBJECTIVE: The aim of this study was to use single-nucleotide polymorphism-array technology to identify copy number variations (CNVs), which are present in the...
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