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Background  The BRCA2 and MRE11 proteins participate in the repair of double-strand DNA breaks by homologous recombination. Germline  BRCA2  mutations predispose to ovarian, breast and pancreatic cancer, while a germline  MRE11  mutation is associated with an ataxia telangiectasia-like disorder. Somatic mutations of  BRCA2  are rare in typical sporadic cancers. In tumors having microsatellite instability (MSI), somatic truncating mutations in a poly [A] tract of  BRCA2  are reported on occasion.    Results  We analyzed gastrointestinal MSI cancers by whole gene  BRCA2  sequencing, finding heterozygous truncating mutations in seven (47%) of 15 patients. There was no cellular functional defect in RAD51 focus-formation in three heterozygously mutated lines studied, although other potential functions of the BRCA2 protein could still be affected. A prior report of mutations in primary MSI tumors affecting the IVS5-(5–15) poly [T] tract of the  MRE11  gene was confirmed and extended by analysis of the genomic sequence and protein expression in MSI cancer cell lines. Statistical analysis of the published  MRE11  mutation rate in MSI tumors did not provide evidence for a selective pressure favoring biallelic mutations at this repeat.    Conclusion  Perhaps conflicting with common suspicions, the data are not compatible with selective pressures during tumorigenesis promoting the functional loss of  BRCA2  and  MRE11  in MSI tumors. Instead, these data fit closely with an absence of selective pressures acting on  BRCA2  and  MRE11  gene status during tumorigenesis.

bmc genomic data

Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: Considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers