作者
Michael Marotta, Xiongfong Chen, Ayako Inoshita, Robert Stephens, G Thomas Budd, Joseph P Crowe, Joanne Lyons, Anna Kondratova, Raymond Tubbs, Hisashi Tanaka
发表日期
2012/12
期刊
Breast Cancer Research
卷号
14
页码范围
1-19
出版商
BioMed Central
简介
Introduction
Segmental duplications (low-copy repeats) are the recently duplicated genomic segments in the human genome that display nearly identical (> 90%) sequences and account for about 5% of euchromatic regions. In germline, duplicated segments mediate nonallelic homologous recombination and thus cause both non-disease-causing copy-number variants and genomic disorders. To what extent duplicated segments play a role in somatic DNA rearrangements in cancer remains elusive. Duplicated segments often cluster and form genomic blocks enriched with both direct and inverted repeats (complex genomic regions). Such complex regions could be fragile and play a mechanistic role in the amplification of the ERBB2 gene in breast tumors, because repeated sequences are known to initiate gene amplification in model systems.
Methods …
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