Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations

Plain language summary The total number of mutations, or changes, found within the DNA of cancer cells in a tumor sample is known as the tumor mutational burden (TMB). TMB scores have been proposed to be a marker of how well a tumor might respond to immunotherapy, a type of treatment that triggers t...

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Autores principales:	Simon Papillon-Cavanagh, Julia F. Hopkins, Shakti H. Ramkissoon, Lee A. Albacker, Alice M. Walsh
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R
Acceso en línea:	https://doaj.org/article/4e897cbc9b7e4b24833e722c9700416e
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spelling	oai:doaj.org-article:4e897cbc9b7e4b24833e722c9700416e2021-12-05T12:11:08ZPan-cancer analysis of the effect of biopsy site on tumor mutational burden observations10.1038/s43856-021-00054-82730-664Xhttps://doaj.org/article/4e897cbc9b7e4b24833e722c9700416e2021-12-01T00:00:00Zhttps://doi.org/10.1038/s43856-021-00054-8https://doaj.org/toc/2730-664XPlain language summary The total number of mutations, or changes, found within the DNA of cancer cells in a tumor sample is known as the tumor mutational burden (TMB). TMB scores have been proposed to be a marker of how well a tumor might respond to immunotherapy, a type of treatment that triggers the body’s immune system to target the cancer. Here, we look at whether TMB scores are dependent on the location in the body from which a tumor sample is taken, the biopsy site. We use over 100,000 specimens from 47 tissues for 12 different cancer types and test for associations between TMB scores and biopsy site. We find that the biopsy site has a strong impact on TMB score. These findings might impact on how clinicians interpret the results of genetic testing in patients and how they make decisions on treatment.Simon Papillon-CavanaghJulia F. HopkinsShakti H. RamkissoonLee A. AlbackerAlice M. WalshNature PortfolioarticleMedicineRENCommunications Medicine, Vol 1, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R
spellingShingle	Medicine R Simon Papillon-Cavanagh Julia F. Hopkins Shakti H. Ramkissoon Lee A. Albacker Alice M. Walsh Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations
description	Plain language summary The total number of mutations, or changes, found within the DNA of cancer cells in a tumor sample is known as the tumor mutational burden (TMB). TMB scores have been proposed to be a marker of how well a tumor might respond to immunotherapy, a type of treatment that triggers the body’s immune system to target the cancer. Here, we look at whether TMB scores are dependent on the location in the body from which a tumor sample is taken, the biopsy site. We use over 100,000 specimens from 47 tissues for 12 different cancer types and test for associations between TMB scores and biopsy site. We find that the biopsy site has a strong impact on TMB score. These findings might impact on how clinicians interpret the results of genetic testing in patients and how they make decisions on treatment.
format	article
author	Simon Papillon-Cavanagh Julia F. Hopkins Shakti H. Ramkissoon Lee A. Albacker Alice M. Walsh
author_facet	Simon Papillon-Cavanagh Julia F. Hopkins Shakti H. Ramkissoon Lee A. Albacker Alice M. Walsh
author_sort	Simon Papillon-Cavanagh
title	Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations
title_short	Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations
title_full	Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations
title_fullStr	Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations
title_full_unstemmed	Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations
title_sort	pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/4e897cbc9b7e4b24833e722c9700416e
work_keys_str_mv	AT simonpapilloncavanagh pancanceranalysisoftheeffectofbiopsysiteontumormutationalburdenobservations AT juliafhopkins pancanceranalysisoftheeffectofbiopsysiteontumormutationalburdenobservations AT shaktihramkissoon pancanceranalysisoftheeffectofbiopsysiteontumormutationalburdenobservations AT leeaalbacker pancanceranalysisoftheeffectofbiopsysiteontumormutationalburdenobservations AT alicemwalsh pancanceranalysisoftheeffectofbiopsysiteontumormutationalburdenobservations
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Pan-cancer analysis of the effect of biopsy site on tumor mutational burden observations

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