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基因不稳定的临床表现相互重叠。

Clinical manifestations of genetic instability overlap one another.

作者信息

Méhes Károly, Kosztolányi György

机构信息

Research Group of Clinical Genetics of the Hungarian Academy of Sciences at the Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.

出版信息

Pathol Oncol Res. 2004;10(1):12-6. doi: 10.1007/BF02893402. Epub 2004 Mar 18.

DOI:10.1007/BF02893402
PMID:15029255
Abstract

Cancer syndromes are characteristic associations of specific malignancies with various congenital anomalies. In addition to such diseases, an increased prevalence in general of chromosomal instability, malformations, immunodeficiencies, altered growth and development, and reproductive loss has been observed in both childhood leukemias and solid tumors. The overlap among these congenital disorders suggests their common prenatal, possibly genetic origin and thus the existence of a nonspecific genetic instability leading to various clinical manifestations of disturbances in cell division. Seeking for related features in family members of a patient with malignancy may be of clinical value in detecting predisposition to cancer.

摘要

癌症综合征是特定恶性肿瘤与各种先天性异常的特征性关联。除了这类疾病外,在儿童白血病和实体瘤中均观察到染色体不稳定性、畸形、免疫缺陷、生长发育改变以及生殖功能丧失等情况的总体患病率增加。这些先天性疾病之间的重叠表明它们可能有共同的产前起源,可能是遗传起源,因此存在一种非特异性的遗传不稳定性,导致细胞分裂紊乱的各种临床表现。在恶性肿瘤患者的家庭成员中寻找相关特征,对于检测癌症易感性可能具有临床价值。

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Risk of breast cancer in families with cleft lip and palate.唇腭裂家族中乳腺癌的风险。
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Cancer risk in persons with oral cleft--a population-based study of 8,093 cases.口腔腭裂患者的癌症风险——一项基于8093例病例的人群研究。
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本文引用的文献

1
Situs inversus totalis with malignant lymphoma of the stomach: report of a case.全内脏转位合并胃恶性淋巴瘤:病例报告
Surg Today. 2003;33(7):533-6. doi: 10.1007/s10595-002-2530-z.
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Genomic instability--the engine of tumorigenesis?基因组不稳定——肿瘤发生的引擎?
Nat Rev Cancer. 2003 Sep;3(9):701-8. doi: 10.1038/nrc1170.
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Homeobox genes: a molecular link between development and cancer.同源异型盒基因:发育与癌症之间的分子联系。
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Chromosome instability in cancer: how, when, and why?癌症中的染色体不稳定性:如何、何时以及为何出现?
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Association of wilms tumor with spinal dysraphism.
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Genetic predisposition and screening in pediatric cancer.儿童癌症的遗传易感性与筛查
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Chromosome breakage syndromes and cancer.染色体断裂综合征与癌症。
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