{'fraction_non_alphanumeric': 0.024043715846994537, 'fraction_numerical': 0.03715846994535519, 'mean_word_length': 5.317241379310345, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A

Most patients with genetic medullary thyroid carcinoma (MTC), including familial MTC and multiple endocrine neoplasia type 2 (MEN2), have a germline mutation in the RET proto-oncogene, located on chromosome 10q11.2. Germline mutations in the extracellular cysteinerich domain are found in 98 per cent, with 85 per cent having a mutation in codon 6341. Mutations in the intracellular domain are rare. Phaeochromocytoma and hyperparathyroidism (HPT) are classically associated with RET codon 634 mutation1. Malignancy and aggressiveness vary according to the specific codon mutation. Point mutation of the intracellular domain in exon 14, leading to a substitution of valine 804 by either leucine or methionine, has been described in familial MTC2,3. This report is of the first familial case of a V804M mutation associated with MEN2A.