AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.

doi:10.1093/hmg/ddv227

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Article

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.

Human molecular genetics - 15 Sept 2015

Virts Elizabeth L, Jankowska Anna, Mackay Craig, Glaas Marcel F, Wiek Constanze, Kelich Stephanie L, Lottmann Nadine, Kennedy Felicia M, Marchal Christophe, Lehnert Erik, Scharf Rüdiger E, Dufour Carlo, Lanciotti Marina, Farruggia Piero, Santoro Alessandra, Savasan Süreyya, Scheckenbach Kathrin, Schipper Jörg, Wagenmann Martin, Lewis Todd, Leffak Michael, Farlow Janice L, Foroud Tatiana M, Honisch Ellen, Niederacher Dieter, Chakraborty Sujata C, Vance Gail H, Pruss Dmitry, Timms Kirsten M, Lanchbury Jerry S, Alpi Arno F, Hanenberg Helmut

Abstract excerpt

Fanconi anemia (FA) is a rare inherited disorder clinically characterized by congenital malformations, progressive bone marrow failure and cancer susceptibility. At the cellular level, FA is associated with hypersensitivity to DNA-crosslinking genotoxins. Eight of 17 known FA genes assemble the F...

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Identifiers

PMID: 26085575
DOI: 10.1093/hmg/ddv227
PMCID: PMC4550815

Genes

FANCD2
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26085575-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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