APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Raymond J Cho; Ludmil B Alexandrov; Nicoline Y den Breems; Velina S Atanasova; Mehdi Farshchian; Elizabeth Purdom; Tran N Nguyen; Cristian Coarfa; Kimal Rajapakshe; Marco Prisco; Joya Sahu; Patrick Tassone; Evan J Greenawalt; Eric A Collisson; Wei Wu; Hui Yao; Xiaoping Su; Christina Guttmann-Gruber; Josefina Piñón Hofbauer; Raabia Hashmi; Ignacia Fuentes; Stephen C Benz; Justin Golovato; Erik A Ehli; Christel M Davis; Gareth E Davies; Kyle R Covington; Dedee F Murrell; Julio C Salas-Alanis; Francis Palisson; Anna L Bruckner; William Robinson; Cristina Has; Leena Bruckner-Tuderman; Matthias Titeux; Marcel F Jonkman; Elham Rashidghamat; Su M Lwin; Jemima E Mellerio; John A McGrath; Johann Bauer; Alain Hovnanian; Kenneth Y Tsai; Andrew P South

doi:10.1126/scitranslmed.aas9668

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Raymond J Cho, Ludmil B Alexandrov, Nicoline Y den Breems, Velina S Atanasova, Mehdi Farshchian, Elizabeth Purdom, Tran N Nguyen, Cristian Coarfa, Kimal Rajapakshe, Marco Prisco, Joya Sahu, Patrick Tassone, Evan J Greenawalt, Eric A Collisson, Wei Wu, Hui Yao, Xiaoping Su, Christina Guttmann-Gruber (Co-author), Josefina Piñón Hofbauer (Co-author), Raabia HashmiIgnacia Fuentes, Stephen C Benz, Justin Golovato, Erik A Ehli, Christel M Davis, Gareth E Davies, Kyle R Covington, Dedee F Murrell, Julio C Salas-Alanis, Francis Palisson, Anna L Bruckner, William Robinson, Cristina Has, Leena Bruckner-Tuderman, Matthias Titeux, Marcel F Jonkman, Elham Rashidghamat, Su M Lwin, Jemima E Mellerio, John A McGrath, Johann Bauer (Co-author), Alain Hovnanian, Kenneth Y Tsai, Andrew P South

Research output: Contribution to journal › Original Article › peer-review

94 Citations (Web of Science)

Original language	English
Journal	SCIENCE TRANSLATIONAL MEDICINE
Volume	10
Issue number	455
DOIs	https://doi.org/10.1126/scitranslmed.aas9668
Publication status	Published - 2018

Keywords

COMPREHENSIVE GENOMIC CHARACTERIZATION
BURROWS-WHEELER TRANSFORM
HUMAN CANCER
BREAST-CANCER
SOMATIC MUTATIONS
READ ALIGNMENT
HETEROGENEITY
SIGNATURES
EVOLUTION
IDENTIFICATION

Access to Document

10.1126/scitranslmed.aas9668

Cite this

Cho, R. J., Alexandrov, L. B., den Breems, N. Y., Atanasova, V. S., Farshchian, M., Purdom, E., Nguyen, T. N., Coarfa, C., Rajapakshe, K., Prisco, M., Sahu, J., Tassone, P., Greenawalt, E. J., Collisson, E. A., Wu, W., Yao, H., Su, X., Guttmann-Gruber, C., Hofbauer, J. P., ... South, A. P. (2018). APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. SCIENCE TRANSLATIONAL MEDICINE, 10(455). https://doi.org/10.1126/scitranslmed.aas9668

@article{8d92edec259848a9bc3ddef40c624315,

title = "APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.",

keywords = "COMPREHENSIVE GENOMIC CHARACTERIZATION, BURROWS-WHEELER TRANSFORM, HUMAN CANCER, BREAST-CANCER, SOMATIC MUTATIONS, READ ALIGNMENT, HETEROGENEITY, SIGNATURES, EVOLUTION, IDENTIFICATION",

author = "Cho, {Raymond J} and Alexandrov, {Ludmil B} and {den Breems}, {Nicoline Y} and Atanasova, {Velina S} and Mehdi Farshchian and Elizabeth Purdom and Nguyen, {Tran N} and Cristian Coarfa and Kimal Rajapakshe and Marco Prisco and Joya Sahu and Patrick Tassone and Greenawalt, {Evan J} and Collisson, {Eric A} and Wei Wu and Hui Yao and Xiaoping Su and Christina Guttmann-Gruber and Hofbauer, {Josefina Pi{\~n}{\'o}n} and Raabia Hashmi and Ignacia Fuentes and Benz, {Stephen C} and Justin Golovato and Ehli, {Erik A} and Davis, {Christel M} and Davies, {Gareth E} and Covington, {Kyle R} and Murrell, {Dedee F} and Salas-Alanis, {Julio C} and Francis Palisson and Bruckner, {Anna L} and William Robinson and Cristina Has and Leena Bruckner-Tuderman and Matthias Titeux and Jonkman, {Marcel F} and Elham Rashidghamat and Lwin, {Su M} and Mellerio, {Jemima E} and McGrath, {John A} and Johann Bauer and Alain Hovnanian and Tsai, {Kenneth Y} and South, {Andrew P}",

note = "Guttmann-Gruber, C; Hofbauer, JP; Bauer, JW: Paracelsus Med Univ, Univ Hosp Salzburg, Dept Dermatol, Res Program Mol Therapy Genodermatoses,EB House A, Salzburg, Austria ",

year = "2018",

doi = "10.1126/scitranslmed.aas9668",

language = "English",

volume = "10",

journal = "SCIENCE TRANSLATIONAL MEDICINE",

issn = "1946-6234",

number = "455",

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Cho, RJ, Alexandrov, LB, den Breems, NY, Atanasova, VS, Farshchian, M, Purdom, E, Nguyen, TN, Coarfa, C, Rajapakshe, K, Prisco, M, Sahu, J, Tassone, P, Greenawalt, EJ, Collisson, EA, Wu, W, Yao, H, Su, X, Guttmann-Gruber, C , Hofbauer, JP, Hashmi, R, Fuentes, I, Benz, SC, Golovato, J, Ehli, EA, Davis, CM, Davies, GE, Covington, KR, Murrell, DF, Salas-Alanis, JC, Palisson, F, Bruckner, AL, Robinson, W, Has, C, Bruckner-Tuderman, L, Titeux, M, Jonkman, MF, Rashidghamat, E, Lwin, SM, Mellerio, JE, McGrath, JA, Bauer, J, Hovnanian, A, Tsai, KY & South, AP 2018, 'APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.', SCIENCE TRANSLATIONAL MEDICINE, vol. 10, no. 455. https://doi.org/10.1126/scitranslmed.aas9668

TY - JOUR

T1 - APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

AU - Cho, Raymond J

AU - Alexandrov, Ludmil B

AU - den Breems, Nicoline Y

AU - Atanasova, Velina S

AU - Farshchian, Mehdi

AU - Purdom, Elizabeth

AU - Nguyen, Tran N

AU - Coarfa, Cristian

AU - Rajapakshe, Kimal

AU - Prisco, Marco

AU - Sahu, Joya

AU - Tassone, Patrick

AU - Greenawalt, Evan J

AU - Collisson, Eric A

AU - Wu, Wei

AU - Yao, Hui

AU - Su, Xiaoping

AU - Guttmann-Gruber, Christina

AU - Hofbauer, Josefina Piñón

AU - Hashmi, Raabia

AU - Fuentes, Ignacia

AU - Benz, Stephen C

AU - Golovato, Justin

AU - Ehli, Erik A

AU - Davis, Christel M

AU - Davies, Gareth E

AU - Covington, Kyle R

AU - Murrell, Dedee F

AU - Salas-Alanis, Julio C

AU - Palisson, Francis

AU - Bruckner, Anna L

AU - Robinson, William

AU - Has, Cristina

AU - Bruckner-Tuderman, Leena

AU - Titeux, Matthias

AU - Jonkman, Marcel F

AU - Rashidghamat, Elham

AU - Lwin, Su M

AU - Mellerio, Jemima E

AU - McGrath, John A

AU - Bauer, Johann

AU - Hovnanian, Alain

AU - Tsai, Kenneth Y

AU - South, Andrew P

N1 - Guttmann-Gruber, C; Hofbauer, JP; Bauer, JW: Paracelsus Med Univ, Univ Hosp Salzburg, Dept Dermatol, Res Program Mol Therapy Genodermatoses,EB House A, Salzburg, Austria

PY - 2018

Y1 - 2018

KW - COMPREHENSIVE GENOMIC CHARACTERIZATION

KW - BURROWS-WHEELER TRANSFORM

KW - HUMAN CANCER

KW - BREAST-CANCER

KW - SOMATIC MUTATIONS

KW - READ ALIGNMENT

KW - HETEROGENEITY

KW - SIGNATURES

KW - EVOLUTION

KW - IDENTIFICATION

U2 - 10.1126/scitranslmed.aas9668

DO - 10.1126/scitranslmed.aas9668

M3 - Original Article

C2 - 30135250

SN - 1946-6234

VL - 10

JO - SCIENCE TRANSLATIONAL MEDICINE

JF - SCIENCE TRANSLATIONAL MEDICINE

IS - 455

ER -