Literature DB >> 19297405

Constitutional aneuploidy and cancer predisposition.

Ithamar Ganmore1, Gil Smooha, Shai Izraeli.   

Abstract

Constitutional aneuploidies are rare syndromes associated with multiple developmental abnormalities and the alterations in the risk for specific cancers. Acquired somatic chromosomal aneuploidies are the most common genetic aberrations in sporadic cancers. Thus studies of these rare constitutional aneuploidy syndromes are important not only for patient counseling and clinical management, but also for deciphering the mechanisms by which chromosomal aneuploidy affect cancer initiation and progression. Here we review the major constitutional aneuploidy syndromes and suggest some general mechanisms for the associated cancer predisposition.

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Year:  2009        PMID: 19297405      PMCID: PMC2657942          DOI: 10.1093/hmg/ddp084

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  143 in total

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2.  Leiomyosarcoma in a patient with trisomy 8 mosaicism.

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Review 5.  Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases.

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Journal:  Genes Chromosomes Cancer       Date:  2002-01       Impact factor: 5.006

6.  Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments of chromosome 8.

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7.  Risks of leukaemia and solid tumours in individuals with Down's syndrome.

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8.  Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations.

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Review 9.  Intracranial germ-cell tumors: natural history and pathogenesis.

Authors:  M T Jennings; R Gelman; F Hochberg
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10.  Mosaic variegated aneuploidy without microcephaly: implications for cytogenetic diagnosis.

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Journal:  Am J Med Genet A       Date:  2007-08-15       Impact factor: 2.802

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  40 in total

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Review 2.  Developmental disease and cancer: biological and clinical overlaps.

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Journal:  Am J Med Genet A       Date:  2013-10-07       Impact factor: 2.802

Review 3.  Too much to handle - how gaining chromosomes destabilizes the genome.

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Journal:  Cell Cycle       Date:  2016-09-16       Impact factor: 4.534

Review 4.  Evolution of myeloid leukemia in children with Down syndrome.

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Journal:  Int J Hematol       Date:  2016-02-24       Impact factor: 2.490

Review 5.  Causes of genome instability: the effect of low dose chemical exposures in modern society.

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Journal:  Carcinogenesis       Date:  2015-06       Impact factor: 4.944

6.  Tumorigenesis in Down's syndrome: big lessons from a small chromosome.

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Journal:  Nat Rev Cancer       Date:  2012-09-21       Impact factor: 60.716

7.  Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

Authors:  Siddharth K Prakash; Carolyn A Bondy; Cheryl L Maslen; Michael Silberbach; Angela E Lin; Laura Perrone; Giuseppe Limongelli; Hector I Michelena; Eduardo Bossone; Rodolfo Citro; Scott A Lemaire; Simon C Body; Dianna M Milewicz
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Review 8.  Determinants and clinical implications of chromosomal instability in cancer.

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Journal:  Nat Rev Clin Oncol       Date:  2018-01-03       Impact factor: 66.675

Review 9.  Chromosomal instability and aneuploidy in cancer: from yeast to man.

Authors:  Sarah J Pfau; Angelika Amon
Journal:  EMBO Rep       Date:  2012-06-01       Impact factor: 8.807

10.  Chromosome-wide gene dosage rebalance may benefit tumor progression.

Authors:  Honglei Zhang; Xing Yang; Xu Feng; Haibo Xu; Qin Yang; Li Zou; Mei Yan; Dequan Liu; Xiaosan Su; Baowei Jiao
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