homozygosity for chek2 p gly167arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

Two patients presented with multiple chromosomal translocations, with an early-onset multiorgan tumourogenesis and and early-onset acute myeloid leukaemia, were sequenced by the Rambam Medical Center. By applying the Genoox prioritization engine, the same homozygous mutation in CHEK2 (c.499G>A) was identified, revealing its role as a cancer predisposition alteration.

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