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.. Blood genome sequence from MMR variant carriers. 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.