Results 221 to 230 of about 116,502 (262)

Germline p16 mutations in familial melanoma

Nature Genetics, 1994
The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds.
C J, Hussussian, J P, Struewing, A M, Goldstein, P A, Higgins, D S, Ally, M D, Sheahan, W H, Clark, M A, Tucker, N C, Dracopoli   +8 more
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Germline and somatic mutations in meningiomas

Cancer Genetics, 2015
Meningiomas 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

Monoallelic mutation analysis (MAMA) for identifying germline mutations

Nature Genetics, 1995
Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal allele. Here we report the development of a sensitive and specific diagnostic strategy based on somatic cell hybridization termed MAMA (monoallelic ...
N, Papadopoulos, F S, Leach, K W, Kinzler, B, Vogelstein   +3 more
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Germline APC mutations in hepatoblastoma

Pediatric Blood & Cancer, 2017
AbstractBackgroundConflicting 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, Rebecca Sisson, Anita Gupta, Greg Tiao, James I. Geller   +4 more
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Germline SDHD Mutation in Familial Phaeochromocytoma

Lancet, The, 2001
The 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
Charis Eng, Eamonn R Maher, Emma R Woodward   +2 more
exaly   +3 more sources

The impact of germline mutations on targeted therapy

The Journal of Pathology, 2013
AbstractTargeted therapies provide clinical benefit and improved therapeutic index. They have a growing prominence in patient management and focus in drug development. Their development is fuelled by our deepening knowledge of complex disease phenotypes and the need for improvement in new therapeutic efficacy.
Simon A, Smith, Tim, French, Simon J, Hollingsworth   +2 more
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CDKN2A (p16INK4A) somatic and germline mutations

Human Mutation, 1996
The 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
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Germline mutations in NF1 patients with malignancies

Genes, Chromosomes and Cancer, 1999
We have analyzed 98.5% of the coding region of the NF1 gene at the cDNA level in seven NF1 patients who developed malignant peripheral nerve sheath tumors. Seven germline mutations were detected in six individuals: a 6-bp in-frame deletion in exon 28, a splice acceptor mutation in intron 31 resulting in a premature stop of translation, a missense ...
R, Wu, C, López-Correa, J L, Rutkowski, L L, Baumbach, T W, Glover, E, Legius   +5 more
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Myeloid neoplasms with germline DDX41 mutation

International Journal of Hematology, 2017
Recently, 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, Christopher N. Hahn, Devendra K. Hiwase, Hamish S. Scott, Anna L. Brown   +4 more
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Germline FH Mutations Presenting With Pheochromocytoma

The Journal of Clinical Endocrinology & Metabolism, 2014
Abstract 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., Sciacovelli, Marco, Gaude, Edoardo, Walsh, Diana M., Kirby, Gail, Simpson, Michael A., Trembath, Richard C., Berg, Jonathon N., Woodward, Emma R., Kinning, Esther, Morrison, Patrick J., Frezza, Christian, Maher, Eamonn R.   +12 more
openaire   +4 more sources