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.

Germline pathogenic variants in mismatch repair (MMR) genes cause two cancer syndromes: Lynch syndrome (LS) and Constitutional Mismatch Repair Deficiency (CMMRD). Peripheral blood leukocyte DNAs were PCR-amplified and genome sequenced to >120x depth from three CMMRD patients, one LS carrier, and two individuals without known cancer predisposition to identify sequence variants in non-neoplastic tissues.