نتایج جستجو برای: cdkn2a

تعداد نتایج: 2929  

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پزشکی 1390

بیماری سرطان خون پرومیلوسیتیک حاد (apl) با جابجایی کروموزومی t(15;17) همراه است که منجر به ایجاد پروتئین pml-rara می شود. بررسی مدلهای حیوانی نشان داده اند که اگرچه در این بیماری وجود این پروتئین الحاقی ضروری است ولی به تنهایی برای توسعه بیماری کافی نیست. با مطالعه آرایه های بیماران و مدلهای حیوانی apl نواحی کروموزومی که غالبا" دچار حذف یا تکثیر می شوند انتخاب شدند. 11 ناحیه ژنی شامل tp53، cmyc...

2012
Shinichi Yachida Catherine M. White Yoshiki Naito Yi Zhong Jacqueline A. Brosnan Anne M. Macgregor-Das Richard A. Morgan Tyler Saunders Daniel A. Laheru Joseph M. Herman Ralph H. Hruban Alison P. Klein Siân Jones Victor Velculescu Christopher L. Wolfgang Christine A. Iacobuzio-Donahue

Purpose: Genetic alterations of KRAS, CDKN2A, TP53, and SMAD4 are the most frequent events in pancreatic cancer. We determined the extent to which these 4 alterations are coexistent in the same carcinoma, and their impact on patient outcome. Experimental Design: Pancreatic cancer patients who underwent an autopsy were studied (n 1⁄4 79). Matched primary and metastasis tissues were evaluated for...

Journal: :Journal of the National Cancer Institute 2000
K Plna K Hemminki

BACKGROUND : Inherited mutations in the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, and in the cyclin-dependent kinase 4 (CDK4) gene confer susceptibility to cutaneous malignant melanoma. We analyzed families with two or more cases of melanoma for germline mutations in CDKN2A and CDK4 to elucidate the contribution of these gene defects to familial malignant melanoma and ...

Journal: :Pigment cell & melanoma research 2014
Richard J Young Kelly Waldeck Claire Martin Jung H Foo Donald P Cameron Laura Kirby Hongdo Do Catherine Mitchell Carleen Cullinane Wendy Liu Stephen B Fox Ken Dutton-Regester Nicholas K Hayward Nicholas Jene Alexander Dobrovic Richard B Pearson James G Christensen Sophia Randolph Grant A McArthur Karen E Sheppard

We have investigated the potential for the p16-cyclin D-CDK4/6-retinoblastoma protein pathway to be exploited as a therapeutic target in melanoma. In a cohort of 143 patients with primary invasive melanoma, we used fluorescence in situ hybridization to detect gene copy number variations (CNVs) in CDK4, CCND1, and CDKN2A and immunohistochemistry to determine protein expression. CNVs were common ...

2016
Ran Zhao Bu Young Choi Mee-Hyun Lee Ann M. Bode Zigang Dong

Aberrant gene silencing is highly associated with altered cell cycle regulation during carcinogenesis. In particular, silencing of the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, has a causal link with several different types of cancers. The p16(INK4a) protein plays an executional role in cell cycle and senescence through the regulation of the cyclin-dependent kinase (CD...

Journal: :Cancer research 2001
P M Pollock J Welch N K Hayward

Cytogenetic and loss of heterozygosity (LOH) studies have long indicated the presence of a tumor suppressor gene (TSG) on 9p involved in the development of melanoma. Although LOH at 9p has been reported in approximately 60% of melanoma tumors, only 5-10% of these tumors have been shown to carry CDKN2A mutations, raising the possibility that another TSG involved in melanoma maps to chromosome 9p...

Journal: :Archives of dermatology 2007
Adina Figl Ranjit K Thirumaran Selma Ugurel Andreas Gast Kari Hemminki Rajiv Kumar Dirk Schadendorf

BACKGROUND A 19-base pair germline deletion in exon 2 of the CDKN2A (cyclin-dependent kinase inhibitor 2A) gene (Leiden mutation) has been detected in Dutch families with familial melanomas. The penetrance of CDKN2A mutations varies widely and is influenced by environmental and unrelated genetic factors such as variants in the MC1R gene. OBSERVATIONS We describe a 25-year-old German woman who...

Journal: :Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2008
E M Lima M F Leal R R Burbano A S Khayat P P Assumpção M J Bello J A Rey M A C Smith C Casartelli

Gastric cancer is the forth most frequent malignancy and the second most common cause of cancer death worldwide. DNA methylation is the most studied epigenetic alteration, occurring through a methyl radical addition to the cytosine base adjacent to guanine. Many tumor genes are inactivated by DNA methylation in gastric cancer. We evaluated the DNA methylation status of ANAPC1, CDKN2A and TP53 b...

Journal: :International journal of clinical and experimental medicine 2015
Shiliang Huang Hua Ye Wenying Guo Xianwen Dong Nali Wu Xie Zhang Zhigang Huang

AIM Gastric cancer is a major health problem and current treatment lacks lasting effect. Targeted therapy for gastric cancer with specific genetic background is in urgent need. METHODS We have studied The Cancer Genomic Atlas (TCGA) and The Genomics of Drug Sensitivity in Cancer (GDSC) databases to reveal genes with high frequency of mutation and possible sensitive compound against such gene ...

Journal: :American journal of human genetics 2001
N F Box D L Duffy W Chen M Stark N G Martin R A Sturm N K Hayward

Mutations in the exons of the cyclin-dependent kinase inhibitor gene CDKN2A are melanoma-predisposition alleles which have high penetrance, although they have low population frequencies. In contrast, variants of the melanocortin-1 receptor gene, MC1R, confer much lower melanoma risk but are common in European populations. Fifteen Australian CDKN2A mutation-carrying melanoma pedigrees were asses...

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