Results 271 to 280 of about 123,315 (302)

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
openaire   +2 more sources

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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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
openaire   +2 more sources

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 Mutations as Cancer Drug Targets

Cancer Discovery
Abstract Hereditary cancer syndromes are associated with causative pathogenic variants and clinical pathologies. Therapeutic advances have provided proof-of-concept for the actionability of the germline, whereas epidemiologic studies have identified pathogenic germline variants across tumor ...
Tin-Yun Tang, Karen Colbert Maresso, Joanne Ngeow, Eduardo Vilar, Timothy A. Yap   +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

Mutation induction in the mouse and human germline

Russian Journal of Genetics, 2016
The review describes the effects of exposure to mutagens on mutation induction in human and mouse germlines. The results of studies that evaluated inductions of mutations in human families subjected to irradiation are presented and discussed. The effects of exposure to mutagens on mutation induction in the mouse germline are also considered. We analyze
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E-Cadherin Germline Mutations

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, Hugo Pinheiro, Carla Oliveira   +2 more
openaire   +1 more source

Evolution of the germline mutation rate across vertebrates

Nature, 2023
Lucie A Bergeron, Søren Besenbacher, Changwei Shao   +2 more
exaly  

Germline Mutation

2008
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