Homozygosity for CHEK2 p. Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

T Paperna, N Sharon-Shwartzman, A Kurolap… - Journal of Medical …, 2020 - jmg.bmj.com
Background Chromosomal instability, as reflected by structural or copy-number changes, is
a known cancer characteristic but are rarely observed in healthy tissue. Mutations in DNA …