Whole genome sequence of the peripheral blood leukocyte DNA of carriers of mismatch repair gene variants predisposing to Lynch syndrome or Constitutional Mismatch Repair Deficiency. Dataset 2.

Abstract: Germline pathogenic variants in mismatch repair (MMR) genes cause two cancer syndromes: Lynch syndrome (LS) and Constitutional Mismatch Repair Deficiency (CMMRD). Using a PCR-free library preparation, peripheral blood leukocyte DNAs were sequenced to >60x depth from two CMMRD patients, seven LS carriers, and three individuals without known cancer predisposition to identify sequence variants in non-neoplastic tissues.