TY - JOUR
T1 - Stress and DNA repair biology of the Fanconi anemia pathway
AU - Longerich, Simonne
AU - Li, Jian
AU - Xiong, Yong
AU - Sung, Patrick
AU - Kupfer, Gary M.
N1 - Publisher Copyright:
© 2014 by The American Society of Hematology.
PY - 2014/10/30
Y1 - 2014/10/30
N2 - Fanconi anemia(FA) represents a paradigm of rare genetic diseases, where the quest for cause and cure has led to seminal discoveries in cancer biology. Although a total of 16 FA genes have been identified thus far, the biochemical functionofmany of the FA proteins remains to be elucidated. FA is rare, yet the fact that 5 FA genes are in fact familial breast cancer genesand FA gene mutations are found frequently in sporadic cancers suggest wider applicability in hematopoiesis and oncology. Establishing the interacti on network involving the FA proteins and their associated partners has revealed an intersection of FA with several DNA repair pathways, including homologousre combination, DNA mismatch repair, nucleotide excision repair, and translesion DNA synthesis. Importantly, recent studies have shown a major involvement of the FA pathway in the tolerance of reactive aldehydes. Moreover, despite improved outcomes in stem cell transplantation in the treatment of FA, many challenges remain in patient care.
AB - Fanconi anemia(FA) represents a paradigm of rare genetic diseases, where the quest for cause and cure has led to seminal discoveries in cancer biology. Although a total of 16 FA genes have been identified thus far, the biochemical functionofmany of the FA proteins remains to be elucidated. FA is rare, yet the fact that 5 FA genes are in fact familial breast cancer genesand FA gene mutations are found frequently in sporadic cancers suggest wider applicability in hematopoiesis and oncology. Establishing the interacti on network involving the FA proteins and their associated partners has revealed an intersection of FA with several DNA repair pathways, including homologousre combination, DNA mismatch repair, nucleotide excision repair, and translesion DNA synthesis. Importantly, recent studies have shown a major involvement of the FA pathway in the tolerance of reactive aldehydes. Moreover, despite improved outcomes in stem cell transplantation in the treatment of FA, many challenges remain in patient care.
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U2 - 10.1182/blood-2014-04-526293
DO - 10.1182/blood-2014-04-526293
M3 - Review article
C2 - 25237197
AN - SCOPUS:84908632027
SN - 0006-4971
VL - 124
SP - 2812
EP - 2819
JO - Blood
JF - Blood
IS - 18
ER -