А case of breast cancer in pms2 mutation carrier

Breast cancer (BC) is not a typical manifestation of Lynch syndrome. The existence and extent excessive breast risk in carriers pathogenic mutations the syndrome-associated genes (MLH1, MSH2, MSH6, PMS2) remains an open question. In addition, it known that some neoplasms patients with this syndrome are causally linked to hereditary mutation, arise completely independently defect gene DNA mismatch repair system. case accidental detection such germline patients, thorough differential diagnosis between these categories tumors required, result actionable, requiring changes management. This report arose carrier mutation PMS2 gene, which was finding. description molecular genetic diagnostics given: microsatellite markers assessment «loss heterozygosity» allowed classify neoplasm category cases developed without any causal link patient's