About Mutations in the ATM Gene
网页2023年7月17日 · If you both have a mutation in the ATM gene, which is rare, there’s a chance your child could be born with a serious condition called ataxia-telangiectasia (uh-TAK-see-uh-teh-LAN-jee-ek-TAY-zhuh), or AT. AT is a rare disorder that affects the nervous system, immune system, and other body systems.
The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice
网页2021年5月13日 · In general, the ATM gene is involved in cell cycle control, apoptosis, gene regulation, oxidative stress, and telomere maintenance and is deregulated in many malignancies such as breast cancer (BC) . Many ATM mutations have been described and associated with a moderate risk of BC development .
ATM Gene - GeneCards | ATM Protein | ATM Antibody
网页2024年8月5日 · ATM (ATM Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with ATM include Ataxia-Telangiectasia and Mantle Cell Lymphoma . Among its related pathways are Homologous DNA Pairing and Strand Exchange and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) .
ATM Mutations in Cancer: Therapeutic Implications
网页2016年8月3日 · Germ-line mutations of the ataxia telangiectasia mutated (ATM) gene result in the well-characterized ataxia telangiectasia syndrome, which manifests with an increased cancer predisposition, including a 20% to 30% lifetime risk of lymphoid, gastric, breast, central nervous system, skin, and other cancers.
Cellular functions of the protein kinase ATM and their ... - Nature
网页2021年8月24日 · The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-strand DNA break (DSB) signalling and stress responses.
ATM: Main Features, Signaling Pathways, and Its Diverse Roles in …
网页2021年5月30日 · ATM activates BRCA1 and ATF2 to promote cascades of DNA damage repair signaling pathways that involve hundreds of sensors, transducers, and effectors. In addition, ATM also turns on and stabilizes p53 via direct phosphorylation. ATM additionally phosphorylates MDMX to induce its degradation, thereby further stabilizing p53.
Rare variants in the ATM gene and risk of breast cancer
网页2011年7月25日 · The risk estimates from this study suggest that women carrying the pathogenic variant, ATM c.7271T > G, or truncating mutations demonstrate a significantly increased risk of breast cancer with a penetrance that appears similar to that conferred by germline mutations in BRCA2.
ATM in breast and brain tumors: a comprehensive review
网页2018年1月31日 · Alterations in the ATM gene are the main cause of the rare autosomal recessive disorder, ataxia-telangiectasia (AT). This condition is characterized by neuro-degeneration, cerebellar ataxia, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, frequent infections, immunodeficiency, radiosensitivity, and a …
The association between ATM variants and risk of breast cancer: a ...
网页2021年1月5日 · Ataxia telangiectasia-mutated (ATM) gene contributes to repair damaged DNA and to regulate cell cycle; therefore, ATM variants seem to increase breast cancer risk; however, the results are controversial. So we conducted a systematic review and meta-analysis to clarify the pooled association between various ATM variants and the risk of breast ...
Rare variants in the ATM gene and risk of breast cancer
网页2011年7月25日 · To investigate the role of ATM in BC susceptibility, we studied 76 rare sequence variants in the ATM gene in a case-control family study of 2,570 cases of breast cancer and 1,448 controls. The variants were grouped into three categories based on their likely pathogenicity, as determined by in silico analysis and analyzed by …