Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

ConclusionsCMMRD is rare, but, especially in areas where founder mutations for LS and consanguinity are common, pediatricians should be aware of it since they are the first to encounter these children. Early diagnosis will enable tailored cancer surveillance in the entire family and a discussion regarding prenatal genetic diagnosis.

Source: Pediatric Blood and Cancer - November 6, 2015 Category: Cancer & Oncology Authors: Hagit N. Baris, Inbal Barnes‐Kedar, Helen Toledano, Marisa Halpern, Dov Hershkovitz, Alexander Lossos, Israela Lerer, Tamar Peretz, Revital Kariv, Shlomi Cohen, Elizabeth E. Half, Nurit Magal, Valerie Drasinover, Katharina Wimmer, Yael Goldberg, Dani Be Tags: Research Article Source Type: research