It is unknown, however, whethergene alterations would be associated with tumorigenesis in hereditary, MEN2-related pheochromocytoma. We therefore investigated four pheochromocytomas from patients with MEN2A andgermline mutations for the presence of allelic deletion and/or somatic mutation of thegene. LOH...
The different clinical varieties of MEN 2 (MEN 2A, MEN 2B, FMTC—see chapter 1) are associated with distinct types of mutation in the ret proto-oncogene. This genetic information coupled with a basic understanding of the ways in which the different types of mutation may affect the activity o...
RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma discovery of the RET proto-oncogene, the association between genotype and phenotype, and the role of mutation analysis on diagnosis and treatment of MEN2... GWK And,JA Norton...
The different clinical varieties of MEN 2 (MEN 2A, MEN 2B, FMTC—see chapter 1) are associated with distinct types of mutation in the ret proto-oncogene. This genetic information coupled with a basic understanding of the ways in which the different types of mutation may affect the activity ...
Genetic testing allows easily for accurate diagnosis of presymptomatic gene carriers and surgical treatment at an early stage of the disease. In this review we delivered the classification, clinical feature, mutation in RET, mutation analysis, and management of MEN 2, and we discuss recent progress...
MEN1 gene mutation analysis of high-grade neuroendocrine lung carcinoma. Debelenko L V,Swalwell J I,Kelley M J,Brambilla E,Manickam P,Baibakov G,... - 《Genes Chromosomes & Cancer》 被引量: 22发表: 2015年 The P16/cyclin D1/Rb pathway in neuroendocrine tumors of the lung Rb protein ...
In the Drakes' living room, Bobby finished telling his parents and brother about his mutation. Pyro was playing with his lighter. Bobby's mother, Madeline Drake, started asking her son when he first discovered he was a mutant, but, when she couldn't bring herself to say the word 'mutant...
Chromatin-binding proteins are critical regulators of cell state in haematopoiesis1,2. Acute leukaemias driven by rearrangement of the mixed lineage leukaemia 1 gene (KMT2Ar) or mutation of the nucleophosmin gene (NPM1) require the chromatin adapter protein menin, encoded by the MEN1 gene, to ...
CONCLUSION: Thirteen percent of pulmonary carcinoids harbor MEN1 mutation associated with reduced mRNA expression and poor prognosis. Also in mutation-negative tumors, low MEN1 gene expression correlates with an adverse disease outcome. Hypermethylation was excluded as the underlying mechanism. 展开 ...
Germline mutations in the MEN1 gene are well documented as the genetic cause of multiple endocrine neoplasia type 1 (MEN1). In this study, we performed genetic analysis by direct MEN1 gene mutation analysis on a Chinese MEN1 family. The two patients in this family were diagnosed as MEN1 ...