Breast cancer;
brain tumor;
DNA damage;
DNA repair;
DNA-DAMAGE RESPONSE;
DOUBLE-STRAND BREAKS;
SINGLE NUCLEOTIDE POLYMORPHISM;
ATAXIA-TELANGIECTASIA;
CELL-CYCLE;
CANCER PATIENTS;
EARLY-ONSET;
IONIZING-RADIATION;
MISSENSE MUTATIONS;
CHILDHOOD MEDULLOBLASTOMA;
D O I:
10.20892/j.issn.2095-3941.2018.0022
中图分类号:
R73 [肿瘤学];
学科分类号:
100214 ;
摘要:
The ATM gene is mutated in the syndrome, ataxia-telangiectasia (AT), which is characterized by predisposition to cancer. Patients with AT have an elevated risk of breast and brain tumors Carrying mutations in ATM, patients with AT have an elevated risk of breast and brain tumors. An increased frequency of ATM mutations has also been reported in patients with breast and brain tumors; however, the magnitude of this risk remains uncertain. With the exception of a few common mutations, the spectrum of ATM alterations is heterogeneous in diverse populations, and appears to be remarkably dependent on the ethnicity of patients. This review aims to provide an easily accessible summary of common variants in different populations which could be useful in ATM screening programs. In addition, we have summarized previous research on ATM, including its molecular functions. We attempt to demonstrate the significance of ATM in exploration of breast and brain tumors and its potential as a therapeutic target.
机构:
Inst Curie, Dept Med Oncol, Unite Invest Clin, F-75248 Paris 05, FranceInst Curie, Dept Med Oncol, Unite Invest Clin, F-75248 Paris 05, France
Dieras, Veronique
Pierga, Jean-Yves
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Inst Curie, Dept Med Oncol, Unite Invest Clin, F-75248 Paris 05, France
Univ Paris 05, F-75270 Paris 06, FranceInst Curie, Dept Med Oncol, Unite Invest Clin, F-75248 Paris 05, France
机构:
Albany Med Coll, Albany, NY 12208 USAAlbany Med Coll, Albany, NY 12208 USA
Nozad, Sahar
Sheehan, Christine E.
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Albany Med Coll, Albany, NY 12208 USAAlbany Med Coll, Albany, NY 12208 USA
Sheehan, Christine E.
Gay, Laurie M.
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机构:
Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Gay, Laurie M.
Elvin, Julia A.
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Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Elvin, Julia A.
Vergilio, Jo-Anne
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Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Vergilio, Jo-Anne
Suh, James
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Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Suh, James
Ramkissoon, Shakti
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Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Ramkissoon, Shakti
Schrock, Alexa B.
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Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Schrock, Alexa B.
Hirshfield, Kim M.
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机构:
Rutgers State Univ, Rutgers Canc Inst New Jersey, Div Med Oncol, Dept Med, New Brunswick, NJ USAAlbany Med Coll, Albany, NY 12208 USA
Hirshfield, Kim M.
Ali, Nadia
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机构:
Rutgers State Univ, Rutgers Canc Inst New Jersey, Div Med Oncol, Dept Med, New Brunswick, NJ USAAlbany Med Coll, Albany, NY 12208 USA
Ali, Nadia
Ganesan, Shridar
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机构:
Rutgers State Univ, Rutgers Canc Inst New Jersey, Div Med Oncol, Dept Med, New Brunswick, NJ USAAlbany Med Coll, Albany, NY 12208 USA
Ganesan, Shridar
Ali, Siraj M.
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Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Ali, Siraj M.
Miller, Vincent A.
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Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Miller, Vincent A.
Stephens, Philip J.
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Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
Stephens, Philip J.
Ross, Jeffrey S.
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机构:
Albany Med Coll, Albany, NY 12208 USA
Fdn Med Inc, Cambridge, MA 02141 USA
Albany Med Coll, Dept Pathol & Lab Med, 47 New Scotland Ave, Albany, NY 12208 USAAlbany Med Coll, Albany, NY 12208 USA
Ross, Jeffrey S.
Chung, Jon H.
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机构:
Fdn Med Inc, Cambridge, MA 02141 USAAlbany Med Coll, Albany, NY 12208 USA
机构:
Shiga Univ Med Sci, Dept Radiol, Tsukinowa Cho, Otsu, Shiga 5202192, Japan
Mayo Clin, Dept Radiol, Rochester, MN 55905 USAShiga Univ Med Sci, Dept Radiol, Tsukinowa Cho, Otsu, Shiga 5202192, Japan
Inoue, Akitoshi
Ota, Shinichi
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机构:
Nagahama Red Cross Hosp, Dept Radiol, Nagahama, Shiga, JapanShiga Univ Med Sci, Dept Radiol, Tsukinowa Cho, Otsu, Shiga 5202192, Japan
Ota, Shinichi
Yamasaki, Michio
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机构:
Kohka Publ Hosp, Dept Radiol, Koka, Shiga, JapanShiga Univ Med Sci, Dept Radiol, Tsukinowa Cho, Otsu, Shiga 5202192, Japan
Yamasaki, Michio
Batsaikhan, Bolorkhand
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机构:
Tokyo Metropolitan Univ, Grad Sch Human Hlth Sci, Dept Radiol Sci, Tokyo, JapanShiga Univ Med Sci, Dept Radiol, Tsukinowa Cho, Otsu, Shiga 5202192, Japan
Batsaikhan, Bolorkhand
Furukawa, Akira
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h-index: 0
机构:
Tokyo Metropolitan Univ, Grad Sch Human Hlth Sci, Dept Radiol Sci, Tokyo, JapanShiga Univ Med Sci, Dept Radiol, Tsukinowa Cho, Otsu, Shiga 5202192, Japan