Article
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
PloS one - 1 Jan 2019
Pouliot Gayle P, Degar James, Hinze Laura, Kochupurakkal Bose, Vo Chau D, Burns Melissa A, Moreau Lisa, Ganesa Chirag, Roderick Justine, Peirs Sofie, Menten Bjorn, Loh Mignon L, Hunger Stephen P, Silverman Lewis B, Harris Marian H, Stevenson Kristen E, Weinstock David M, Weng Andrew P, Van Vlierberghe Pieter, D'Andrea Alan D, Gutierrez Alejandro
Abstract excerpt
BRCA2 (also known as FANCD1) is a core component of the Fanconi pathway and suppresses transformation of immature T-cells in mice. However, the contribution of Fanconi-BRCA pathway deficiency to human T-cell acute lymphoblastic leukemia (T-ALL) remains undefined. We identified point mutations in 9 (23%) of 40 human T-ALL cases analyzed, with variant allele fractions consistent with heterozygous mutations early in...
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