Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese

Abstract

The finding of MEN1 germ-line mutation in all patients with familial MEN1 syndrome suggests that genetic screening should be useful in our population to identify affected individuals within a kindred and allow early detection of MEN1-related tumours.

Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia‐1

“…As compared with the mutations in the MEN1 gene in the southern Han Chinese with MEN1, 14 we found no similar mutations in the Han Chinese in Taiwan.…”

“…6 The MEN1 gene encodes a 610-amino-acid protein, termed menin, which is located in the nucleus 7 and is also considered to be a putative tumour suppressor. The prevalence of MEN1 gene mutations among patients with MEN1 is variable among different populations, 10-13 ranging from 75% in southern Chinese 14 and 100% in Japanese patients. 2 The majority of mutations leading to truncation at the C-terminus of menin are the result of either alternative splicing, deletion/insertion causing frameshift or nonsense mutations causing early termination in translation.…”

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

“…Three Southern Chinese phenocopies with endocrine tumours were reported as multiple endocrine neoplasia type 1. 21 In all, 10% of patients with multiple endocrine neoplasia type 1 diagnosed with an unspecific clinical investigation and not by genetic analysis were phenocopies. 22 Several patients with apparent Huntington's disease did not have a mutation, but had a mutation in another gene.…”

Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese

“…PubMed and WanFang (a Chinese database) were utilized to summarize the results of genetic analysis in Chinese MEN1 patients. Most of the previous studies were case reports with the biggest sample size of 12 patients (6 sporadic and 6 familial cases) [20]. In all reported cases, 31 MEN1 mutations were detected in 32 MEN1 families (96.9%) and 3 MEN1 mutations were reported in 6 sporadic MEN1 patients (50%)[8, 9, 20–28].…”

“…Most of the previous studies were case reports with the biggest sample size of 12 patients (6 sporadic and 6 familial cases) [20]. In all reported cases, 31 MEN1 mutations were detected in 32 MEN1 families (96.9%) and 3 MEN1 mutations were reported in 6 sporadic MEN1 patients (50%)[8, 9, 20–28]. Sporadic MEN1 cases were included in only one of these studies [20], which suggests that selection and publication bias might be present and therefore, real MEN1 mutation rate could not be accurately calculated from these studies.…”