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The role of ataxia-telangiectasia heterozygotes in familial breast cancer.

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The role of ataxia-telangiectasia (AT) heterozygotes in breast cancer has been controversial. We have found previously an overrepresentation (3.4%) of ATM mutations in a subset of 88 selected breast cancer patients with a family history of breast cancer, leukemia, and lymphoma. This prevalence is

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

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The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis. To analyze the consequences of 12 missense variants in patients with mild forms of ataxia-telangiectasia (A-T),

Mutation at intronic repeats of the ataxia-telangiectasia mutated (ATM) gene and ATM protein loss in primary gastric cancer with microsatellite instability.

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Ataxia-telangiectasia mutated (ATM) is a Ser/Thr protein kinase that plays a critical role in DNA damage-induced signaling and initiation of cell cycle checkpoint signaling in response to DNA-damaging agents such as ionizing radiation. We have previously reported the ATM protein loss by

Improved ataxia telangiectasia mutated kinase inhibitor KU60019 provides a promising treatment strategy for non-invasive breast cancer.

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It has previously been reported that KU60019, as a highly effective radiosensitizer, inhibits the DNA damage response and blocks radiation-induced phosphorylation of key ataxia telangiectasia mutated targets in human glioma cells. The present study investigated whether KU60019 affects cell

Multistage vectored siRNA targeting ataxia-telangiectasia mutated for breast cancer therapy.

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The ataxia-telangiectasia mutated (ATM) protein plays a central role in DNA damage response and cell cycle checkpoints, and may be a promising target for cancer therapy if normal tissue toxicity could be avoided. The strategy presented here to target ATM for breast cancer therapy involves the use of

Small Molecules Targeting Ataxia Telangiectasia and Rad3-Related (ATR) Kinase: An Emerging way to Enhance Existing Cancer Therapy.

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The main aim of current cancer research is to find a way to selectively affect the tumor cells, while leaving normal cells intact. Ataxia telangiectasia and Rad3-related kinase (ATR), a member of the phosphatidylinositol-3-related protein kinases (PIKK), represents a candidate target for achieving

Breast cancer incidence and the effect of cigarette smoking in heterozygous carriers of mutations in the ataxia-telangiectasia gene.

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BACKGROUND Mutations in the ataxia-telangiectasia (A-T) gene cause an autosomal recessive syndrome in homozygotes and compound heterozygotes and predispose female heterozygous carriers to breast cancer. No environmental agent has been previously shown to increase the risk of cancer for women who

Effects of ataxia telangiectasia mutated (ATM) genotypes and smoking habits on lung cancer risk in Taiwan.

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OBJECTIVE The study aimed to evaluate the association and interaction of ataxia telangiectasia mutated (ATM) genetic polymorphisms with lung cancer risk in Taiwan, where lung cancer is the primary cause of cancer-related death. METHODS In this hospital-based matched case-control study, associations

Epstein-Barr virus related opsoclonus-myoclonus-ataxia does not rule out the presence of occult neuroblastic tumors.

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Opsoclonus-myoclonus-ataxia (OMA) secondary to Epstein-Barr virus (EBV) infection has only been described in three pediatric patients. Previous reports suggested that evidence for a recent EBV infection in the absence of an occult neoplasm would predict a favorable prognosis for OMA as well as no

Ataxia-telangiectasia mutated expression is associated with tobacco smoke exposure in esophageal cancer tissues and benzo[a]pyrene diol epoxide in cell lines.

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Esophageal cancer is a substantial health problem because of its usually late stage at diagnosis and poor prognosis. Tobacco smoking and alcohol use are the most important risk factors in the development of esophageal squamous cell carcinoma (SCC). Our previous study demonstrated the binding of

Incidence and prognostic factors of ataxia in children with posterior fossa tumors.

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There is minimal literature specific to motor outcomes in children with posterior fossa tumors (PFTs) despite ataxia being a significant problem in this group. This study aims to report children's physical outcomes following management of PFT and determine which factors affect severity

Ataxia-telangiectasia and endodermal sinus tumor of the ovary: report of a case.

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Ataxia-telangiectasia, an inherited disorder characterized by progressive cerebellar ataxia and telangiectasias, is often associated with primary immunodeficiency and high incidence of malignancies, mostly of the lymphoreticular type. Endodermal sinus tumor is a rare germ cell tumor of the ovary

Cerebellar ataxia, opsoclonus, and occult neural crest tumor. Abdominal computerized tomography in diagnosis.

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A 9-month-old female with opsoclonus and ataxia was examined. Computerized axial tomography (CT) of her abdomen identified a retroperitoneal mass of neural crest origin that was not recognized by more conventional roentgenographic methods. The syndrome of cerebellar ataxia, myoclonus, and

Inter-rater reliability and validity of two ataxia rating scales in children with brain tumours.

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OBJECTIVE This study aimed to investigate the inter-rater reliability and construct validity of the Scale for the Assessment and Rating of Ataxia (SARA) and Brief Ataxia Rating Scale (BARS) in children with posterior fossa tumours. These scales have been developed for adults with genetic ataxias,

Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

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BACKGROUND Severe early and late radiation reaction to radiotherapy is extremely rare in breast cancer patients. Such a reaction prompted an investigation into a 44-year-old mother (patient A-T213). METHODS A neurological examination was performed and blood lymphocytes and skin fibroblasts were

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