Characterization of Aberrations in DNA Damage Repair Pathways in Gastrointestinal Stromal Tumors: The Clinicopathologic Relevance of γH2AX and 53BP1 in Correlation with Heterozygous Deletions of <i>CHEK2</i>, <i>BRCA2</i>, and <i>RB1</i>.

Although the co-deletion of RB1 and BRCA2 was only seen in two cases, it showed a marginal trend toward association among all primary GISTs ( p = 0.066), partly reflective of their chromosomal proximity.

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Despite the marginal trend toward significance, the frequency of RB1/BRCA2 co-deletion was even lower (~5%, 2/41) in GISTs analyzed by MLPA, indicating independent alterations of either gene in a subset of primary GISTs.

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Similarly, variations in the IF expression levels of γ-H2AX and 53BP1 were also highly significant when compared among normal tissue and two combined groups comprising GISTs at different risk levels.

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