High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas

Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emergin...
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Autor*in:	Mei, Ping [verfasserIn] Freitag, C. Eric [verfasserIn] Wei, Lai [verfasserIn] Zhang, Yunxiang [verfasserIn] Parwani, Anil V. [verfasserIn] Li, Zaibo [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	Breast carcinoma Genetic mutation Tumor mutation burden DNA damage repair genes

Übergeordnetes Werk:	Enthalten in: Diagnostic pathology - [S.l.] : BioMed Central, 2006, 15(2020), 1 vom: 11. Mai
Übergeordnetes Werk:	volume:15 ; year:2020 ; number:1 ; day:11 ; month:05

Links:	Volltext

DOI / URN:	10.1186/s13000-020-00971-7

Katalog-ID:	SPR03968332X

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520			\|a Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy.
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allfields	10.1186/s13000-020-00971-7 doi (DE-627)SPR03968332X (SPR)s13000-020-00971-7-e DE-627 ger DE-627 rakwb eng 610 ASE Mei, Ping verfasserin aut High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy. Breast carcinoma (dpeaa)DE-He213 Genetic mutation (dpeaa)DE-He213 Tumor mutation burden (dpeaa)DE-He213 DNA damage repair genes (dpeaa)DE-He213 Freitag, C. Eric verfasserin aut Wei, Lai verfasserin aut Zhang, Yunxiang verfasserin aut Parwani, Anil V. verfasserin aut Li, Zaibo verfasserin aut Enthalten in Diagnostic pathology [S.l.] : BioMed Central, 2006 15(2020), 1 vom: 11. Mai (DE-627)503328960 (DE-600)2210518-9 1746-1596 nnns volume:15 year:2020 number:1 day:11 month:05 https://dx.doi.org/10.1186/s13000-020-00971-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 1 11 05
spelling	10.1186/s13000-020-00971-7 doi (DE-627)SPR03968332X (SPR)s13000-020-00971-7-e DE-627 ger DE-627 rakwb eng 610 ASE Mei, Ping verfasserin aut High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy. Breast carcinoma (dpeaa)DE-He213 Genetic mutation (dpeaa)DE-He213 Tumor mutation burden (dpeaa)DE-He213 DNA damage repair genes (dpeaa)DE-He213 Freitag, C. Eric verfasserin aut Wei, Lai verfasserin aut Zhang, Yunxiang verfasserin aut Parwani, Anil V. verfasserin aut Li, Zaibo verfasserin aut Enthalten in Diagnostic pathology [S.l.] : BioMed Central, 2006 15(2020), 1 vom: 11. Mai (DE-627)503328960 (DE-600)2210518-9 1746-1596 nnns volume:15 year:2020 number:1 day:11 month:05 https://dx.doi.org/10.1186/s13000-020-00971-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 1 11 05
allfields_unstemmed	10.1186/s13000-020-00971-7 doi (DE-627)SPR03968332X (SPR)s13000-020-00971-7-e DE-627 ger DE-627 rakwb eng 610 ASE Mei, Ping verfasserin aut High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy. Breast carcinoma (dpeaa)DE-He213 Genetic mutation (dpeaa)DE-He213 Tumor mutation burden (dpeaa)DE-He213 DNA damage repair genes (dpeaa)DE-He213 Freitag, C. Eric verfasserin aut Wei, Lai verfasserin aut Zhang, Yunxiang verfasserin aut Parwani, Anil V. verfasserin aut Li, Zaibo verfasserin aut Enthalten in Diagnostic pathology [S.l.] : BioMed Central, 2006 15(2020), 1 vom: 11. Mai (DE-627)503328960 (DE-600)2210518-9 1746-1596 nnns volume:15 year:2020 number:1 day:11 month:05 https://dx.doi.org/10.1186/s13000-020-00971-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 1 11 05
allfieldsGer	10.1186/s13000-020-00971-7 doi (DE-627)SPR03968332X (SPR)s13000-020-00971-7-e DE-627 ger DE-627 rakwb eng 610 ASE Mei, Ping verfasserin aut High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy. Breast carcinoma (dpeaa)DE-He213 Genetic mutation (dpeaa)DE-He213 Tumor mutation burden (dpeaa)DE-He213 DNA damage repair genes (dpeaa)DE-He213 Freitag, C. Eric verfasserin aut Wei, Lai verfasserin aut Zhang, Yunxiang verfasserin aut Parwani, Anil V. verfasserin aut Li, Zaibo verfasserin aut Enthalten in Diagnostic pathology [S.l.] : BioMed Central, 2006 15(2020), 1 vom: 11. Mai (DE-627)503328960 (DE-600)2210518-9 1746-1596 nnns volume:15 year:2020 number:1 day:11 month:05 https://dx.doi.org/10.1186/s13000-020-00971-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 1 11 05
allfieldsSound	10.1186/s13000-020-00971-7 doi (DE-627)SPR03968332X (SPR)s13000-020-00971-7-e DE-627 ger DE-627 rakwb eng 610 ASE Mei, Ping verfasserin aut High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy. Breast carcinoma (dpeaa)DE-He213 Genetic mutation (dpeaa)DE-He213 Tumor mutation burden (dpeaa)DE-He213 DNA damage repair genes (dpeaa)DE-He213 Freitag, C. Eric verfasserin aut Wei, Lai verfasserin aut Zhang, Yunxiang verfasserin aut Parwani, Anil V. verfasserin aut Li, Zaibo verfasserin aut Enthalten in Diagnostic pathology [S.l.] : BioMed Central, 2006 15(2020), 1 vom: 11. Mai (DE-627)503328960 (DE-600)2210518-9 1746-1596 nnns volume:15 year:2020 number:1 day:11 month:05 https://dx.doi.org/10.1186/s13000-020-00971-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2020 1 11 05
language	English
source	Enthalten in Diagnostic pathology 15(2020), 1 vom: 11. Mai volume:15 year:2020 number:1 day:11 month:05
sourceStr	Enthalten in Diagnostic pathology 15(2020), 1 vom: 11. Mai volume:15 year:2020 number:1 day:11 month:05
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Breast carcinoma Genetic mutation Tumor mutation burden DNA damage repair genes
dewey-raw	610
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container_title	Diagnostic pathology
authorswithroles_txt_mv	Mei, Ping @@aut@@ Freitag, C. Eric @@aut@@ Wei, Lai @@aut@@ Zhang, Yunxiang @@aut@@ Parwani, Anil V. @@aut@@ Li, Zaibo @@aut@@
publishDateDaySort_date	2020-05-11T00:00:00Z
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Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Breast carcinoma</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic mutation</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Tumor mutation burden</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">DNA damage repair genes</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Freitag, C. 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author	Mei, Ping
spellingShingle	Mei, Ping ddc 610 misc Breast carcinoma misc Genetic mutation misc Tumor mutation burden misc DNA damage repair genes High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas
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topic_title	610 ASE High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas Breast carcinoma (dpeaa)DE-He213 Genetic mutation (dpeaa)DE-He213 Tumor mutation burden (dpeaa)DE-He213 DNA damage repair genes (dpeaa)DE-He213
topic	ddc 610 misc Breast carcinoma misc Genetic mutation misc Tumor mutation burden misc DNA damage repair genes
topic_unstemmed	ddc 610 misc Breast carcinoma misc Genetic mutation misc Tumor mutation burden misc DNA damage repair genes
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title	High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas
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title_full	High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas
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author_browse	Mei, Ping Freitag, C. Eric Wei, Lai Zhang, Yunxiang Parwani, Anil V. Li, Zaibo
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title_sort	high tumor mutation burden is associated with dna damage repair gene mutation in breast carcinomas
title_auth	High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas
abstract	Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy.
abstractGer	Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy.
abstract_unstemmed	Background Immunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. Conclusions Our data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy.
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title_short	High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas
url	https://dx.doi.org/10.1186/s13000-020-00971-7
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author2	Freitag, C. Eric Wei, Lai Zhang, Yunxiang Parwani, Anil V. Li, Zaibo
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Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas. Methods The study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed. Results High TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics. 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High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas

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