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Large-scale genomic studies have identified multiple somatic aberrations in breast cancer, including copy number alterations and point mutations.
In recent years, whole-genome and whole-exome sequencing studies have provided an ever-expanding survey of somatic aberrations in cancers [152 156].
These data provide the first report of STAG2 somatic aberrations in human PDA.
STAG2 is targeted by somatic aberrations in a subset (4%) of human PDAs.
Two categories have to be distinguished: exactly matching germline and unique, often somatic, aberrations.
Gene fusions are an integral component of the landscape of somatic aberrations in all cancers.
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Moreover, we found a p.A456P mutation that has already been annotated in COSMIC suggesting a recurrent somatic aberration.
Homozygous somatic aberration to key mediators of homologous recombination in DNA repair, including BRCA2 and ATM, now appears common in advanced CRPC (Grasso et al, 2012).
Will a biochemist know which somatic aberration, buried in vast cancer genomics databases, is linked to the protein he is characterizing?
However, only one somatic aberration, amplification of the HER2 locus, is currently used to define a clinical subtype, one that accounts for approximately 10%to15%5% of breast tumours.
In some particular cases, somatic aberration signals could present similar characteristics among genomes of different ploidy (Gusnanto et al., 2012; Oesper et al., 2013), which makes it hard to accurately estimate the tumor ploidy.
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