Results 271 to 280 of about 114,676 (292)
Some of the next articles are maybe not open access.
Germline SDHD mutation in familial phaeochromocytoma
The Lancet, 2001The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the disorder has been reported in some cases of familial head and neck paraganglioma, which is caused by a mutation in the gene encoding succinate dehydrogenase complex subunit D (SDHD), we investigated this gene in kindreds with familial phaeochromocytoma. A germline SDHD
D, Astuti +8 more
openaire +2 more sources
Myeloid neoplasms with germline DDX41 mutation
International Journal of Hematology, 2017Recently, DDX41 mutations have been identified both as germline and acquired somatic mutations in families with multiple cases of late-onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. The majority of germline mutations are frameshift mutations suggesting loss of function with DDX41 acting as a tumor suppressor, and there is a common ...
Jesse J. C. Cheah +4 more
openaire +4 more sources
Germline APC mutations in hepatoblastoma
Pediatric Blood & Cancer, 2017AbstractBackgroundConflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB.MethodsAn Institutional Review Board approved retrospective review of clinical data collected from patients
Adeline Yang +4 more
openaire +2 more sources
2013
Hereditary Diffuse Gastric Cancer is the only gastric cancer syndrome with a proven inherited defect. So far, a single gene has been found altered in this context – CDH1 – the E-cadherin encoding gene. Other E-cadherin-associated hereditary or inheritable disorders have been identified, encompassing Hereditary Diffuse Gastric Cancer families with or ...
Joana Carvalho +2 more
openaire +1 more source
Hereditary Diffuse Gastric Cancer is the only gastric cancer syndrome with a proven inherited defect. So far, a single gene has been found altered in this context – CDH1 – the E-cadherin encoding gene. Other E-cadherin-associated hereditary or inheritable disorders have been identified, encompassing Hereditary Diffuse Gastric Cancer families with or ...
Joana Carvalho +2 more
openaire +1 more source
CDKN2A (p16INK4A) somatic and germline mutations
Human Mutation, 1996The cell cycle is composed of a series of steps that can be negatively or positively regulated by various factors. A group of low-molecular-weight proteins have recently been identified that specifically inhibit the function of cyclin-dependent kinases in mammalian cells.
B, Smith-Sørensen, E, Hovig
openaire +2 more sources
Germline FH Mutations Presenting With Pheochromocytoma
The Journal of Clinical Endocrinology & Metabolism, 2014Abstract Context: At least a third of the patients with pheochromocytoma (PCC) or paraganglioma (PGL) harbor an underlying germline mutation in a known PCC/PGL gene. Mutations in genes (SDHB, SDHD, SDHC, and SDHA) encoding a component of the tricarboxylic acid cycle, succinate dehydrogenase (SDH), are
Clark, Graeme R. +12 more
openaire +3 more sources
Germline and somatic mutations in meningiomas
Cancer Genetics, 2015Meningiomas arise from the arachnoid layer of the meninges that surround the brain and spine. They account for over one third of all primary central nervous system tumors in adults and confer a significant risk of location-dependent morbidity due to compression or displacement.
openaire +3 more sources
Glioblastoma: Germline Mutation of TP53
2011Various brain tumors are components of familial cancer syndromes, and Li-Fraumeni syndrome and Li-Fraumeni-like syndromes are the most famous entities. A rare, sporadic occurrence of brain tumor in peculiarly young subjects, however, sometimes provides a clue to understanding of carcinogenesis due to germline mutations.
Haruhiko Sugimura +12 more
openaire +1 more source