ArticlePloS one2025
Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.
Article in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the genotype-phenotype correlations of multiple endocrine neoplasia type 2A (MEN2A) caused by mutations in exon 10 of the RET gene in Ethnic Han Chinese.
methodsA retrospective analysis was conducted on the family history and genetic characteristics of 14 independent MEN2A pedigrees, all carrying exon 10 mutations of the RET gene, from July 2003 to August 2023.
resultsA total of 74 out of 133 participants carried germline mutations in exon 10 of the RET gene. The cohort included 26 males and 48 females, with nine types of mutations observed: p.C609R, p.C611F/Y, p.C618G/R/S/Y and p.C620R/S. Of these, the C618 mutation was the most prevalent (71.6%), followed by p.C611 (22.9%), p.C620 (4.1%), and p.C609 (1.4%). The penetrance rates for medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism, hirschsprung disease, and cutaneous lichen amyloidosis were 90.3%, 6.9%, 2.8%, 1.4% and 1.4%, respectively. Among the 72 patients with available clinical information, 41 (56.9%) exhibited symptoms of MTC. Comparison of the age at diagnosis, size of MTC, and the positive rate of cervical lymph node metastasis (N1) revealed significant differences between patients with symptomatic and asymptomatic MTC (all P < 0.05). There was a significant difference in the positivity rate of N1 between patients with the p.C618/C620 mutations and those with the p.C609/C611 mutations. Additionally, there was a significant difference in the initial serum calcitonin levels between N1 and N0 patients (P < 0.05).
conclusionExon 10 mutations of the RET gene are frequently located in codon 618 and contribute to the familial MTC phenotype. To improve the recognition of MEN2A, integrating family history, testing for RET mutations, and monitoring serum calcitonin levels are essential for early diagnosis and personalised treatment.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.