Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence

Sarah Moody; Sergey Senkin; S. M.Ashiqul Islam; Jingwei Wang; Dariush Nasrollahzadeh; Ricardo Cortez Cardoso Penha; Stephen Fitzgerald; Erik N. Bergstrom; Joshua Atkins; Yudou He; Azhar Khandekar; Karl Smith-Byrne; Christine Carreira; Valerie Gaborieau; Calli Latimer; Emily Thomas; Irina Abnizova; Pauline E. Bucciarelli; David Jones; Jon W. Teague; Behnoush Abedi-Ardekani; Stefano Serra; Jean Yves Scoazec; Hiva Saffar; Farid Azmoudeh-Ardalan; Masoud Sotoudeh; Arash Nikmanesh; Hossein Poustchi; Ahmadreza Niavarani; Samad Gharavi; Michael Eden; Paul Richman; Lia S. Campos; Rebecca C. Fitzgerald; Luis Felipe Ribeiro; Sheila Coelho Soares-Lima; Charles Dzamalala; Blandina Theophil Mmbaga; Tatsuhiro Shibata; Diana Menya; Alisa M. Goldstein; Nan Hu; Reza Malekzadeh; Abdolreza Fazel; Valerie McCormack; James McKay; Sandra Perdomo; Ghislaine Scelo; Estelle Chanudet; Laura Humphreys; Ludmil B. Alexandrov; Paul Brennan; Michael R. Stratton

doi:10.1038/s41588-021-00928-6

Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence

Sarah Moody, Sergey Senkin, S. M.Ashiqul Islam, Jingwei Wang, Dariush Nasrollahzadeh, Ricardo Cortez Cardoso Penha, Stephen Fitzgerald, Erik N. Bergstrom, Joshua Atkins, Yudou He, Azhar Khandekar, Karl Smith-Byrne, Christine Carreira, Valerie Gaborieau, Calli Latimer, Emily Thomas, Irina Abnizova, Pauline E. Bucciarelli, David Jones, Jon W. TeagueBehnoush Abedi-Ardekani, Stefano Serra, Jean Yves Scoazec, Hiva Saffar, Farid Azmoudeh-Ardalan, Masoud Sotoudeh, Arash Nikmanesh, Hossein Poustchi, Ahmadreza Niavarani, Samad Gharavi, Michael Eden, Paul Richman, Lia S. Campos, Rebecca C. Fitzgerald, Luis Felipe Ribeiro, Sheila Coelho Soares-Lima, Charles Dzamalala, Blandina Theophil Mmbaga, Tatsuhiro Shibata, Diana Menya, Alisa M. Goldstein, Nan Hu, Reza Malekzadeh, Abdolreza Fazel, Valerie McCormack, James McKay, Sandra Perdomo, Ghislaine Scelo, Estelle Chanudet, Laura Humphreys, Ludmil B. Alexandrov, Paul Brennan, Michael R. Stratton

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Résumé

Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence that is not fully explained by known lifestyle and environmental risk factors. It has been speculated that an unknown exogenous exposure(s) could be responsible. Here we combine the fields of mutational signature analysis with cancer epidemiology to study 552 ESCC genomes from eight countries with varying incidence rates. Mutational profiles were similar across all countries studied. Associations between specific mutational signatures and ESCC risk factors were identified for tobacco, alcohol, opium and germline variants, with modest impacts on mutation burden. We find no evidence of a mutational signature indicative of an exogenous exposure capable of explaining differences in ESCC incidence. Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like (APOBEC)-associated mutational signatures single-base substitution (SBS)2 and SBS13 were present in 88% and 91% of cases, respectively, and accounted for 25% of the mutation burden on average, indicating that APOBEC activation is a crucial step in ESCC tumor development.

langue originale	Anglais
Pages (de - à)	1553-1563
Nombre de pages	11
journal	Nature Genetics
Volume	53
Numéro de publication	11
Les DOIs	https://doi.org/10.1038/s41588-021-00928-6
état	Publié - 1 nov. 2021
Modification externe	Oui

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10.1038/s41588-021-00928-6

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Moody, S., Senkin, S., Islam, S. M. A., Wang, J., Nasrollahzadeh, D., Cortez Cardoso Penha, R., Fitzgerald, S., Bergstrom, E. N., Atkins, J., He, Y., Khandekar, A., Smith-Byrne, K., Carreira, C., Gaborieau, V., Latimer, C., Thomas, E., Abnizova, I., Bucciarelli, P. E., Jones, D., ... Stratton, M. R. (2021). Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence. Nature Genetics, 53(11), 1553-1563. https://doi.org/10.1038/s41588-021-00928-6

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title = "Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence",

abstract = "Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence that is not fully explained by known lifestyle and environmental risk factors. It has been speculated that an unknown exogenous exposure(s) could be responsible. Here we combine the fields of mutational signature analysis with cancer epidemiology to study 552 ESCC genomes from eight countries with varying incidence rates. Mutational profiles were similar across all countries studied. Associations between specific mutational signatures and ESCC risk factors were identified for tobacco, alcohol, opium and germline variants, with modest impacts on mutation burden. We find no evidence of a mutational signature indicative of an exogenous exposure capable of explaining differences in ESCC incidence. Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like (APOBEC)-associated mutational signatures single-base substitution (SBS)2 and SBS13 were present in 88% and 91% of cases, respectively, and accounted for 25% of the mutation burden on average, indicating that APOBEC activation is a crucial step in ESCC tumor development.",

author = "Sarah Moody and Sergey Senkin and Islam, {S. M.Ashiqul} and Jingwei Wang and Dariush Nasrollahzadeh and {Cortez Cardoso Penha}, Ricardo and Stephen Fitzgerald and Bergstrom, {Erik N.} and Joshua Atkins and Yudou He and Azhar Khandekar and Karl Smith-Byrne and Christine Carreira and Valerie Gaborieau and Calli Latimer and Emily Thomas and Irina Abnizova and Bucciarelli, {Pauline E.} and David Jones and Teague, {Jon W.} and Behnoush Abedi-Ardekani and Stefano Serra and Scoazec, {Jean Yves} and Hiva Saffar and Farid Azmoudeh-Ardalan and Masoud Sotoudeh and Arash Nikmanesh and Hossein Poustchi and Ahmadreza Niavarani and Samad Gharavi and Michael Eden and Paul Richman and Campos, {Lia S.} and Fitzgerald, {Rebecca C.} and Ribeiro, {Luis Felipe} and Soares-Lima, {Sheila Coelho} and Charles Dzamalala and Mmbaga, {Blandina Theophil} and Tatsuhiro Shibata and Diana Menya and Goldstein, {Alisa M.} and Nan Hu and Reza Malekzadeh and Abdolreza Fazel and Valerie McCormack and James McKay and Sandra Perdomo and Ghislaine Scelo and Estelle Chanudet and Laura Humphreys and Alexandrov, {Ludmil B.} and Paul Brennan and Stratton, {Michael R.}",

note = "Publisher Copyright: {\textcopyright} 2021, The Author(s), under exclusive licence to Springer Nature America, Inc.",

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month = nov,

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doi = "10.1038/s41588-021-00928-6",

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Moody, S, Senkin, S, Islam, SMA, Wang, J, Nasrollahzadeh, D, Cortez Cardoso Penha, R, Fitzgerald, S, Bergstrom, EN, Atkins, J, He, Y, Khandekar, A, Smith-Byrne, K, Carreira, C, Gaborieau, V, Latimer, C, Thomas, E, Abnizova, I, Bucciarelli, PE, Jones, D, Teague, JW, Abedi-Ardekani, B, Serra, S, Scoazec, JY, Saffar, H, Azmoudeh-Ardalan, F, Sotoudeh, M, Nikmanesh, A, Poustchi, H, Niavarani, A, Gharavi, S, Eden, M, Richman, P, Campos, LS, Fitzgerald, RC, Ribeiro, LF, Soares-Lima, SC, Dzamalala, C, Mmbaga, BT, Shibata, T, Menya, D, Goldstein, AM, Hu, N, Malekzadeh, R, Fazel, A, McCormack, V, McKay, J, Perdomo, S, Scelo, G, Chanudet, E, Humphreys, L, Alexandrov, LB, Brennan, P & Stratton, MR 2021, 'Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence', Nature Genetics, VOL. 53, Numéro 11, p. 1553-1563. https://doi.org/10.1038/s41588-021-00928-6

TY - JOUR

T1 - Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence

AU - Moody, Sarah

AU - Senkin, Sergey

AU - Islam, S. M.Ashiqul

AU - Wang, Jingwei

AU - Nasrollahzadeh, Dariush

AU - Cortez Cardoso Penha, Ricardo

AU - Fitzgerald, Stephen

AU - Bergstrom, Erik N.

AU - Atkins, Joshua

AU - He, Yudou

AU - Khandekar, Azhar

AU - Smith-Byrne, Karl

AU - Carreira, Christine

AU - Gaborieau, Valerie

AU - Latimer, Calli

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AU - Abnizova, Irina

AU - Bucciarelli, Pauline E.

AU - Jones, David

AU - Teague, Jon W.

AU - Abedi-Ardekani, Behnoush

AU - Serra, Stefano

AU - Scoazec, Jean Yves

AU - Saffar, Hiva

AU - Azmoudeh-Ardalan, Farid

AU - Sotoudeh, Masoud

AU - Nikmanesh, Arash

AU - Poustchi, Hossein

AU - Niavarani, Ahmadreza

AU - Gharavi, Samad

AU - Eden, Michael

AU - Richman, Paul

AU - Campos, Lia S.

AU - Fitzgerald, Rebecca C.

AU - Ribeiro, Luis Felipe

AU - Soares-Lima, Sheila Coelho

AU - Dzamalala, Charles

AU - Mmbaga, Blandina Theophil

AU - Shibata, Tatsuhiro

AU - Menya, Diana

AU - Goldstein, Alisa M.

AU - Hu, Nan

AU - Malekzadeh, Reza

AU - Fazel, Abdolreza

AU - McCormack, Valerie

AU - McKay, James

AU - Perdomo, Sandra

AU - Scelo, Ghislaine

AU - Chanudet, Estelle

AU - Humphreys, Laura

AU - Alexandrov, Ludmil B.

AU - Brennan, Paul

AU - Stratton, Michael R.

PY - 2021/11/1

Y1 - 2021/11/1

N2 - Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence that is not fully explained by known lifestyle and environmental risk factors. It has been speculated that an unknown exogenous exposure(s) could be responsible. Here we combine the fields of mutational signature analysis with cancer epidemiology to study 552 ESCC genomes from eight countries with varying incidence rates. Mutational profiles were similar across all countries studied. Associations between specific mutational signatures and ESCC risk factors were identified for tobacco, alcohol, opium and germline variants, with modest impacts on mutation burden. We find no evidence of a mutational signature indicative of an exogenous exposure capable of explaining differences in ESCC incidence. Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like (APOBEC)-associated mutational signatures single-base substitution (SBS)2 and SBS13 were present in 88% and 91% of cases, respectively, and accounted for 25% of the mutation burden on average, indicating that APOBEC activation is a crucial step in ESCC tumor development.

AB - Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence that is not fully explained by known lifestyle and environmental risk factors. It has been speculated that an unknown exogenous exposure(s) could be responsible. Here we combine the fields of mutational signature analysis with cancer epidemiology to study 552 ESCC genomes from eight countries with varying incidence rates. Mutational profiles were similar across all countries studied. Associations between specific mutational signatures and ESCC risk factors were identified for tobacco, alcohol, opium and germline variants, with modest impacts on mutation burden. We find no evidence of a mutational signature indicative of an exogenous exposure capable of explaining differences in ESCC incidence. Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like (APOBEC)-associated mutational signatures single-base substitution (SBS)2 and SBS13 were present in 88% and 91% of cases, respectively, and accounted for 25% of the mutation burden on average, indicating that APOBEC activation is a crucial step in ESCC tumor development.

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DO - 10.1038/s41588-021-00928-6

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