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Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

2026-02-27 genetic and genomic medicine Title + abstract only
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While most individuals with familial medullary thyroid carcinoma (fMTC) carry RET mutations, in some instances the causative mutations remain unknown. We studied two related families with RET-negative fMTC in 21 affected individuals through linkage analysis, exome/genome sequencing, and high-density array comparative genomic hybridization. We identified a novel heterozygous 40kb intragenic SLC30A9 deletion which segregated with the disease in all affected individuals. The mutant transcript escap...

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