The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes

McGraw, K.L. (K.L.)|||/items/f6187549-0d2f-404c-99e2-1c2273d8c167; Zhang, L.M. (L.M.)|||/items/d853f3a1-36e8-4019-962f-75f99cf55a49; Rollison, D.E. (D.E.)|||/items/09c47143-c4fc-4b56-8e60-10e26a0aa897; Basiorka, A.A. (A.A.)|||/items/8a6092be-a739-4417-9d23-3721a6124c0b; Fulp, W. (W.)|||/items/9a100b70-ddb1-41b2-94a8-9f2870bb263e; Rawal, B. (B.)|||/items/8b61b76d-deae-443d-a785-fbd115702130; Jerez, A. (A.)|||/items/dbe71bbc-47fa-42de-96a5-8ee6affd3bd3; Billingsley, D.L. (D.L.)|||/items/80cccd7c-b36f-41d2-a219-df519054dea6; Lin, H.Y. (H.Y.)|||/items/b9b8f67b-6528-43e3-a1b8-fcdea818cbb7; Kurtin, S.E. (S.E.)|||/items/96922b7f-dcd4-4de7-a52f-c1bdf98ce3ed; Yoder, S. (S.)|||/items/c367d532-9b9a-450b-86a9-b35796f5e65f; Zhang, Y. (Yi)|||/items/b053cc87-b857-44e9-bca1-cc8bdb3a3a3b; Guinta, K. (K.)|||/items/53dba87f-fbd7-4eb4-a9de-1f803f27ff5b; Mallo, M. (M.)|||/items/5f46b5c2-598e-4786-9a13-287ee847e566; Sole, F. (Francesc)|||/items/f2e2b40d-3895-49b7-a41a-9f01a078406d; Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086; Cervera, J. (Jose)|||/items/9f475de8-2459-4be8-896a-4eb1a02070fa; Such, E. (Esperanza)|||/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01; Gonzalez, T. (T.)|||/items/c8afbd72-fec0-4ef5-9b59-0c5a38fd6e05; Nevill, T.J. (T.J.)|||/items/6d5da324-9257-4fdd-92fe-a966140a4848; Haferlach, T. (Torsten)|||/items/d57938dd-2a4b-42de-a0e7-9c31fc8d3034; Smith, A.E. (A.E.)|||/items/d98b2f59-2630-4961-b9cd-9ca002517b66; Kulasekararaj, A. (A.)|||/items/46001139-ac7b-4a67-9ef7-337f3d76aec2; Mufti, G. (G.)|||/items/fa9ad8ad-a9e1-4410-9f3e-9ace92b0a98e; Karsan, A. (A.)|||/items/3b07d345-a079-435d-86d3-548f51f928ca; Maciejewski, J.P. (J.P.)|||/items/9823805d-0ae5-4307-ad5d-c162dd6b7f0b; Sokol, L. (L.)|||/items/2336fab7-4f6b-4561-8a9a-a0024f6a25c7; Epling-Burnette, P.K. (P.K.)|||/items/7e30dfe6-6784-4630-be40-2507e313124f; Wei, S. (S.)|||/items/01a8641b-ff76-47b3-b9a7-bbc7f100e7a8; List, A.F. (A.F.)|||/items/271c472f-b33c-41ad-bca5-8d28d21a95e2

The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes

Nonsynonymous TP53 exon 4 single-nucleotide polymorphism (SNP), R72P, is linked to cancer and mutagen susceptibility. R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. Myelodysplastic syndrome (MDS) with chromosome 5q deletion is characteriz...

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Detalles Bibliográficos
Autores:	McGraw, K.L. (K.L.)\|\|\|/items/f6187549-0d2f-404c-99e2-1c2273d8c167, Zhang, L.M. (L.M.)\|\|\|/items/d853f3a1-36e8-4019-962f-75f99cf55a49, Rollison, D.E. (D.E.)\|\|\|/items/09c47143-c4fc-4b56-8e60-10e26a0aa897, Basiorka, A.A. (A.A.)\|\|\|/items/8a6092be-a739-4417-9d23-3721a6124c0b, Fulp, W. (W.)\|\|\|/items/9a100b70-ddb1-41b2-94a8-9f2870bb263e, Rawal, B. (B.)\|\|\|/items/8b61b76d-deae-443d-a785-fbd115702130, Jerez, A. (A.)\|\|\|/items/dbe71bbc-47fa-42de-96a5-8ee6affd3bd3, Billingsley, D.L. (D.L.)\|\|\|/items/80cccd7c-b36f-41d2-a219-df519054dea6, Lin, H.Y. (H.Y.)\|\|\|/items/b9b8f67b-6528-43e3-a1b8-fcdea818cbb7, Kurtin, S.E. (S.E.)\|\|\|/items/96922b7f-dcd4-4de7-a52f-c1bdf98ce3ed, Yoder, S. (S.)\|\|\|/items/c367d532-9b9a-450b-86a9-b35796f5e65f, Zhang, Y. (Yi)\|\|\|/items/b053cc87-b857-44e9-bca1-cc8bdb3a3a3b, Guinta, K. (K.)\|\|\|/items/53dba87f-fbd7-4eb4-a9de-1f803f27ff5b, Mallo, M. (M.)\|\|\|/items/5f46b5c2-598e-4786-9a13-287ee847e566, Sole, F. (Francesc)\|\|\|/items/f2e2b40d-3895-49b7-a41a-9f01a078406d, Calasanz-Abinzano, M.J. (Maria Jose)\|\|\|/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086, Cervera, J. (Jose)\|\|\|/items/9f475de8-2459-4be8-896a-4eb1a02070fa, Such, E. (Esperanza)\|\|\|/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01, Gonzalez, T. (T.)\|\|\|/items/c8afbd72-fec0-4ef5-9b59-0c5a38fd6e05, Nevill, T.J. (T.J.)\|\|\|/items/6d5da324-9257-4fdd-92fe-a966140a4848, Haferlach, T. (Torsten)\|\|\|/items/d57938dd-2a4b-42de-a0e7-9c31fc8d3034, Smith, A.E. (A.E.)\|\|\|/items/d98b2f59-2630-4961-b9cd-9ca002517b66, Kulasekararaj, A. (A.)\|\|\|/items/46001139-ac7b-4a67-9ef7-337f3d76aec2, Mufti, G. (G.)\|\|\|/items/fa9ad8ad-a9e1-4410-9f3e-9ace92b0a98e, Karsan, A. (A.)\|\|\|/items/3b07d345-a079-435d-86d3-548f51f928ca, Maciejewski, J.P. (J.P.)\|\|\|/items/9823805d-0ae5-4307-ad5d-c162dd6b7f0b, Sokol, L. (L.)\|\|\|/items/2336fab7-4f6b-4561-8a9a-a0024f6a25c7, Epling-Burnette, P.K. (P.K.)\|\|\|/items/7e30dfe6-6784-4630-be40-2507e313124f, Wei, S. (S.)\|\|\|/items/01a8641b-ff76-47b3-b9a7-bbc7f100e7a8, List, A.F. (A.F.)\|\|\|/items/271c472f-b33c-41ad-bca5-8d28d21a95e2
Tipo de recurso:	artículo
Fecha de publicación:	2015
País:	España
Institución:	Universidad de Navarra
Repositorio:	Dadun. Depósito Académico Digital de la Universidad de Navarra
Idioma:	inglés
OAI Identifier:	oai:dadun.unav.edu:10171/41436
Acceso en línea:	https://hdl.handle.net/10171/41436
Access Level:	acceso abierto
Palabra clave:	Myelodysplastic syndrome Cancer TP53 R72P polymorphism

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oai_identifier_str	oai:dadun.unav.edu:10171/41436
network_acronym_str	ES
network_name_str	España
repository_id_str
dc.title.none.fl_str_mv	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes
title	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes
spellingShingle	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes McGraw, K.L. (K.L.)\|\|\|/items/f6187549-0d2f-404c-99e2-1c2273d8c167 Myelodysplastic syndrome Cancer TP53 R72P polymorphism
title_short	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes
title_full	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes
title_fullStr	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes
title_full_unstemmed	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes
title_sort	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes
dc.creator.none.fl_str_mv	McGraw, K.L. (K.L.)\|\|\|/items/f6187549-0d2f-404c-99e2-1c2273d8c167 Zhang, L.M. (L.M.)\|\|\|/items/d853f3a1-36e8-4019-962f-75f99cf55a49 Rollison, D.E. (D.E.)\|\|\|/items/09c47143-c4fc-4b56-8e60-10e26a0aa897 Basiorka, A.A. (A.A.)\|\|\|/items/8a6092be-a739-4417-9d23-3721a6124c0b Fulp, W. (W.)\|\|\|/items/9a100b70-ddb1-41b2-94a8-9f2870bb263e Rawal, B. (B.)\|\|\|/items/8b61b76d-deae-443d-a785-fbd115702130 Jerez, A. (A.)\|\|\|/items/dbe71bbc-47fa-42de-96a5-8ee6affd3bd3 Billingsley, D.L. (D.L.)\|\|\|/items/80cccd7c-b36f-41d2-a219-df519054dea6 Lin, H.Y. (H.Y.)\|\|\|/items/b9b8f67b-6528-43e3-a1b8-fcdea818cbb7 Kurtin, S.E. (S.E.)\|\|\|/items/96922b7f-dcd4-4de7-a52f-c1bdf98ce3ed Yoder, S. (S.)\|\|\|/items/c367d532-9b9a-450b-86a9-b35796f5e65f Zhang, Y. (Yi)\|\|\|/items/b053cc87-b857-44e9-bca1-cc8bdb3a3a3b Guinta, K. (K.)\|\|\|/items/53dba87f-fbd7-4eb4-a9de-1f803f27ff5b Mallo, M. (M.)\|\|\|/items/5f46b5c2-598e-4786-9a13-287ee847e566 Sole, F. (Francesc)\|\|\|/items/f2e2b40d-3895-49b7-a41a-9f01a078406d Calasanz-Abinzano, M.J. (Maria Jose)\|\|\|/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086 Cervera, J. (Jose)\|\|\|/items/9f475de8-2459-4be8-896a-4eb1a02070fa Such, E. (Esperanza)\|\|\|/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01 Gonzalez, T. (T.)\|\|\|/items/c8afbd72-fec0-4ef5-9b59-0c5a38fd6e05 Nevill, T.J. (T.J.)\|\|\|/items/6d5da324-9257-4fdd-92fe-a966140a4848 Haferlach, T. (Torsten)\|\|\|/items/d57938dd-2a4b-42de-a0e7-9c31fc8d3034 Smith, A.E. (A.E.)\|\|\|/items/d98b2f59-2630-4961-b9cd-9ca002517b66 Kulasekararaj, A. (A.)\|\|\|/items/46001139-ac7b-4a67-9ef7-337f3d76aec2 Mufti, G. (G.)\|\|\|/items/fa9ad8ad-a9e1-4410-9f3e-9ace92b0a98e Karsan, A. (A.)\|\|\|/items/3b07d345-a079-435d-86d3-548f51f928ca Maciejewski, J.P. (J.P.)\|\|\|/items/9823805d-0ae5-4307-ad5d-c162dd6b7f0b Sokol, L. (L.)\|\|\|/items/2336fab7-4f6b-4561-8a9a-a0024f6a25c7 Epling-Burnette, P.K. (P.K.)\|\|\|/items/7e30dfe6-6784-4630-be40-2507e313124f Wei, S. (S.)\|\|\|/items/01a8641b-ff76-47b3-b9a7-bbc7f100e7a8 List, A.F. (A.F.)\|\|\|/items/271c472f-b33c-41ad-bca5-8d28d21a95e2
author	McGraw, K.L. (K.L.)\|\|\|/items/f6187549-0d2f-404c-99e2-1c2273d8c167
author_facet	McGraw, K.L. (K.L.)\|\|\|/items/f6187549-0d2f-404c-99e2-1c2273d8c167 Zhang, L.M. (L.M.)\|\|\|/items/d853f3a1-36e8-4019-962f-75f99cf55a49 Rollison, D.E. (D.E.)\|\|\|/items/09c47143-c4fc-4b56-8e60-10e26a0aa897 Basiorka, A.A. (A.A.)\|\|\|/items/8a6092be-a739-4417-9d23-3721a6124c0b Fulp, W. (W.)\|\|\|/items/9a100b70-ddb1-41b2-94a8-9f2870bb263e Rawal, B. (B.)\|\|\|/items/8b61b76d-deae-443d-a785-fbd115702130 Jerez, A. (A.)\|\|\|/items/dbe71bbc-47fa-42de-96a5-8ee6affd3bd3 Billingsley, D.L. (D.L.)\|\|\|/items/80cccd7c-b36f-41d2-a219-df519054dea6 Lin, H.Y. (H.Y.)\|\|\|/items/b9b8f67b-6528-43e3-a1b8-fcdea818cbb7 Kurtin, S.E. (S.E.)\|\|\|/items/96922b7f-dcd4-4de7-a52f-c1bdf98ce3ed Yoder, S. (S.)\|\|\|/items/c367d532-9b9a-450b-86a9-b35796f5e65f Zhang, Y. (Yi)\|\|\|/items/b053cc87-b857-44e9-bca1-cc8bdb3a3a3b Guinta, K. (K.)\|\|\|/items/53dba87f-fbd7-4eb4-a9de-1f803f27ff5b Mallo, M. (M.)\|\|\|/items/5f46b5c2-598e-4786-9a13-287ee847e566 Sole, F. (Francesc)\|\|\|/items/f2e2b40d-3895-49b7-a41a-9f01a078406d Calasanz-Abinzano, M.J. (Maria Jose)\|\|\|/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086 Cervera, J. (Jose)\|\|\|/items/9f475de8-2459-4be8-896a-4eb1a02070fa Such, E. (Esperanza)\|\|\|/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01 Gonzalez, T. (T.)\|\|\|/items/c8afbd72-fec0-4ef5-9b59-0c5a38fd6e05 Nevill, T.J. (T.J.)\|\|\|/items/6d5da324-9257-4fdd-92fe-a966140a4848 Haferlach, T. (Torsten)\|\|\|/items/d57938dd-2a4b-42de-a0e7-9c31fc8d3034 Smith, A.E. (A.E.)\|\|\|/items/d98b2f59-2630-4961-b9cd-9ca002517b66 Kulasekararaj, A. (A.)\|\|\|/items/46001139-ac7b-4a67-9ef7-337f3d76aec2 Mufti, G. (G.)\|\|\|/items/fa9ad8ad-a9e1-4410-9f3e-9ace92b0a98e Karsan, A. (A.)\|\|\|/items/3b07d345-a079-435d-86d3-548f51f928ca Maciejewski, J.P. (J.P.)\|\|\|/items/9823805d-0ae5-4307-ad5d-c162dd6b7f0b Sokol, L. (L.)\|\|\|/items/2336fab7-4f6b-4561-8a9a-a0024f6a25c7 Epling-Burnette, P.K. (P.K.)\|\|\|/items/7e30dfe6-6784-4630-be40-2507e313124f Wei, S. (S.)\|\|\|/items/01a8641b-ff76-47b3-b9a7-bbc7f100e7a8 List, A.F. (A.F.)\|\|\|/items/271c472f-b33c-41ad-bca5-8d28d21a95e2
author_role	author
author2	Zhang, L.M. (L.M.)\|\|\|/items/d853f3a1-36e8-4019-962f-75f99cf55a49 Rollison, D.E. (D.E.)\|\|\|/items/09c47143-c4fc-4b56-8e60-10e26a0aa897 Basiorka, A.A. (A.A.)\|\|\|/items/8a6092be-a739-4417-9d23-3721a6124c0b Fulp, W. (W.)\|\|\|/items/9a100b70-ddb1-41b2-94a8-9f2870bb263e Rawal, B. (B.)\|\|\|/items/8b61b76d-deae-443d-a785-fbd115702130 Jerez, A. (A.)\|\|\|/items/dbe71bbc-47fa-42de-96a5-8ee6affd3bd3 Billingsley, D.L. (D.L.)\|\|\|/items/80cccd7c-b36f-41d2-a219-df519054dea6 Lin, H.Y. (H.Y.)\|\|\|/items/b9b8f67b-6528-43e3-a1b8-fcdea818cbb7 Kurtin, S.E. (S.E.)\|\|\|/items/96922b7f-dcd4-4de7-a52f-c1bdf98ce3ed Yoder, S. (S.)\|\|\|/items/c367d532-9b9a-450b-86a9-b35796f5e65f Zhang, Y. (Yi)\|\|\|/items/b053cc87-b857-44e9-bca1-cc8bdb3a3a3b Guinta, K. (K.)\|\|\|/items/53dba87f-fbd7-4eb4-a9de-1f803f27ff5b Mallo, M. (M.)\|\|\|/items/5f46b5c2-598e-4786-9a13-287ee847e566 Sole, F. (Francesc)\|\|\|/items/f2e2b40d-3895-49b7-a41a-9f01a078406d Calasanz-Abinzano, M.J. (Maria Jose)\|\|\|/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086 Cervera, J. (Jose)\|\|\|/items/9f475de8-2459-4be8-896a-4eb1a02070fa Such, E. (Esperanza)\|\|\|/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01 Gonzalez, T. (T.)\|\|\|/items/c8afbd72-fec0-4ef5-9b59-0c5a38fd6e05 Nevill, T.J. (T.J.)\|\|\|/items/6d5da324-9257-4fdd-92fe-a966140a4848 Haferlach, T. (Torsten)\|\|\|/items/d57938dd-2a4b-42de-a0e7-9c31fc8d3034 Smith, A.E. (A.E.)\|\|\|/items/d98b2f59-2630-4961-b9cd-9ca002517b66 Kulasekararaj, A. (A.)\|\|\|/items/46001139-ac7b-4a67-9ef7-337f3d76aec2 Mufti, G. (G.)\|\|\|/items/fa9ad8ad-a9e1-4410-9f3e-9ace92b0a98e Karsan, A. (A.)\|\|\|/items/3b07d345-a079-435d-86d3-548f51f928ca Maciejewski, J.P. (J.P.)\|\|\|/items/9823805d-0ae5-4307-ad5d-c162dd6b7f0b Sokol, L. (L.)\|\|\|/items/2336fab7-4f6b-4561-8a9a-a0024f6a25c7 Epling-Burnette, P.K. (P.K.)\|\|\|/items/7e30dfe6-6784-4630-be40-2507e313124f Wei, S. (S.)\|\|\|/items/01a8641b-ff76-47b3-b9a7-bbc7f100e7a8 List, A.F. (A.F.)\|\|\|/items/271c472f-b33c-41ad-bca5-8d28d21a95e2
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Dadun. Depósito Académico Digital Universidad de Navarra
dc.subject.none.fl_str_mv	Myelodysplastic syndrome Cancer TP53 R72P polymorphism
topic	Myelodysplastic syndrome Cancer TP53 R72P polymorphism
description	Nonsynonymous TP53 exon 4 single-nucleotide polymorphism (SNP), R72P, is linked to cancer and mutagen susceptibility. R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. Myelodysplastic syndrome (MDS) with chromosome 5q deletion is characterized by erythroid hypoplasia arising from lineage-specific p53 accumulation resulting from ribosomal insufficiency. We hypothesized that apoptotically diminished R72P C-allele may influence predisposition to del(5q) MDS. Bone marrow and blood DNA was sequenced from 705 MDS cases (333 del(5q), 372 non-del(5q)) and 157 controls. Genotype distribution did not significantly differ between del(5q) cases (12.6% CC, 38.1% CG, 49.2% GG), non-del(5q) cases (9.7% CC, 44.6% CG, 45.7% GG) and controls (7.6% CC, 37.6% CG, 54.8% GG) (P = 0.13). Allele frequency did not differ between non-del(5q) and del(5q) cases (P = 0.91) but trended towards increased C-allele frequency comparing non-del(5q) (P = 0.08) and del(5q) (P = 0.10) cases with controls. Median lenalidomide response duration increased proportionate to C-allele dosage in del(5q) patients (2.2 (CC), 1.3 (CG) and 0.89 years (GG)). Furthermore, C-allele homozygosity in del(5q) was associated with prolonged overall and progressionfree survival and non-terminal interstitial deletions that excluded 5q34, whereas G-allele homozygozity was associated with inferior outcome and terminal deletions involving 5q34 (P = 0.05). These findings comprise the largest MDS R72P SNP analysis.
publishDate	2015
dc.date.none.fl_str_mv	2015 2015-01-01 2015 2015-01-01 2016 2016-08-11
dc.type.none.fl_str_mv	journal article http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://hdl.handle.net/10171/41436
url	https://hdl.handle.net/10171/41436
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.source.none.fl_str_mv	reponame:Dadun. Depósito Académico Digital de la Universidad de Navarra instname:Universidad de Navarra
instname_str	Universidad de Navarra
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repository.mail.fl_str_mv
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spelling	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromesMcGraw, K.L. (K.L.)\|\|\|/items/f6187549-0d2f-404c-99e2-1c2273d8c167Zhang, L.M. (L.M.)\|\|\|/items/d853f3a1-36e8-4019-962f-75f99cf55a49Rollison, D.E. (D.E.)\|\|\|/items/09c47143-c4fc-4b56-8e60-10e26a0aa897Basiorka, A.A. (A.A.)\|\|\|/items/8a6092be-a739-4417-9d23-3721a6124c0bFulp, W. (W.)\|\|\|/items/9a100b70-ddb1-41b2-94a8-9f2870bb263eRawal, B. (B.)\|\|\|/items/8b61b76d-deae-443d-a785-fbd115702130Jerez, A. (A.)\|\|\|/items/dbe71bbc-47fa-42de-96a5-8ee6affd3bd3Billingsley, D.L. (D.L.)\|\|\|/items/80cccd7c-b36f-41d2-a219-df519054dea6Lin, H.Y. (H.Y.)\|\|\|/items/b9b8f67b-6528-43e3-a1b8-fcdea818cbb7Kurtin, S.E. (S.E.)\|\|\|/items/96922b7f-dcd4-4de7-a52f-c1bdf98ce3edYoder, S. (S.)\|\|\|/items/c367d532-9b9a-450b-86a9-b35796f5e65fZhang, Y. (Yi)\|\|\|/items/b053cc87-b857-44e9-bca1-cc8bdb3a3a3bGuinta, K. (K.)\|\|\|/items/53dba87f-fbd7-4eb4-a9de-1f803f27ff5bMallo, M. (M.)\|\|\|/items/5f46b5c2-598e-4786-9a13-287ee847e566Sole, F. (Francesc)\|\|\|/items/f2e2b40d-3895-49b7-a41a-9f01a078406dCalasanz-Abinzano, M.J. (Maria Jose)\|\|\|/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086Cervera, J. (Jose)\|\|\|/items/9f475de8-2459-4be8-896a-4eb1a02070faSuch, E. (Esperanza)\|\|\|/items/6be20352-34f2-41aa-8e65-c71dd9e3cb01Gonzalez, T. (T.)\|\|\|/items/c8afbd72-fec0-4ef5-9b59-0c5a38fd6e05Nevill, T.J. (T.J.)\|\|\|/items/6d5da324-9257-4fdd-92fe-a966140a4848Haferlach, T. (Torsten)\|\|\|/items/d57938dd-2a4b-42de-a0e7-9c31fc8d3034Smith, A.E. (A.E.)\|\|\|/items/d98b2f59-2630-4961-b9cd-9ca002517b66Kulasekararaj, A. (A.)\|\|\|/items/46001139-ac7b-4a67-9ef7-337f3d76aec2Mufti, G. (G.)\|\|\|/items/fa9ad8ad-a9e1-4410-9f3e-9ace92b0a98eKarsan, A. (A.)\|\|\|/items/3b07d345-a079-435d-86d3-548f51f928caMaciejewski, J.P. (J.P.)\|\|\|/items/9823805d-0ae5-4307-ad5d-c162dd6b7f0bSokol, L. (L.)\|\|\|/items/2336fab7-4f6b-4561-8a9a-a0024f6a25c7Epling-Burnette, P.K. (P.K.)\|\|\|/items/7e30dfe6-6784-4630-be40-2507e313124fWei, S. (S.)\|\|\|/items/01a8641b-ff76-47b3-b9a7-bbc7f100e7a8List, A.F. (A.F.)\|\|\|/items/271c472f-b33c-41ad-bca5-8d28d21a95e2Myelodysplastic syndromeCancerTP53 R72P polymorphismNonsynonymous TP53 exon 4 single-nucleotide polymorphism (SNP), R72P, is linked to cancer and mutagen susceptibility. R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. Myelodysplastic syndrome (MDS) with chromosome 5q deletion is characterized by erythroid hypoplasia arising from lineage-specific p53 accumulation resulting from ribosomal insufficiency. We hypothesized that apoptotically diminished R72P C-allele may influence predisposition to del(5q) MDS. Bone marrow and blood DNA was sequenced from 705 MDS cases (333 del(5q), 372 non-del(5q)) and 157 controls. Genotype distribution did not significantly differ between del(5q) cases (12.6% CC, 38.1% CG, 49.2% GG), non-del(5q) cases (9.7% CC, 44.6% CG, 45.7% GG) and controls (7.6% CC, 37.6% CG, 54.8% GG) (P = 0.13). Allele frequency did not differ between non-del(5q) and del(5q) cases (P = 0.91) but trended towards increased C-allele frequency comparing non-del(5q) (P = 0.08) and del(5q) (P = 0.10) cases with controls. Median lenalidomide response duration increased proportionate to C-allele dosage in del(5q) patients (2.2 (CC), 1.3 (CG) and 0.89 years (GG)). Furthermore, C-allele homozygosity in del(5q) was associated with prolonged overall and progressionfree survival and non-terminal interstitial deletions that excluded 5q34, whereas G-allele homozygozity was associated with inferior outcome and terminal deletions involving 5q34 (P = 0.05). These findings comprise the largest MDS R72P SNP analysis.Dadun. Depósito Académico Digital Universidad de Navarra20162016-08-1120152015-01-0120152015-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10171/41436reponame:Dadun. Depósito Académico Digital de la Universidad de Navarrainstname:Universidad de NavarraInglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:dadun.unav.edu:10171/414362026-06-21T12:47:57Z
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The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes

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