Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater prop...
Ausführliche Beschreibung
Autor*in: |
Ozge Ceyhan-Birsoy [verfasserIn] Gowtham Jayakumaran [verfasserIn] Yelena Kemel [verfasserIn] Maksym Misyura [verfasserIn] Umut Aypar [verfasserIn] Sowmya Jairam [verfasserIn] Ciyu Yang [verfasserIn] Yirong Li [verfasserIn] Nikita Mehta [verfasserIn] Anna Maio [verfasserIn] Angela Arnold [verfasserIn] Erin Salo-Mullen [verfasserIn] Margaret Sheehan [verfasserIn] Aijazuddin Syed [verfasserIn] Michael Walsh [verfasserIn] Maria Carlo [verfasserIn] Mark Robson [verfasserIn] Kenneth Offit [verfasserIn] Marc Ladanyi [verfasserIn] Jorge S. Reis-Filho [verfasserIn] Zsofia K. Stadler [verfasserIn] Liying Zhang [verfasserIn] Alicia Latham [verfasserIn] Ahmet Zehir [verfasserIn] Diana Mandelker [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2022 |
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Übergeordnetes Werk: |
In: Genome Medicine - BMC, 2016, 14(2022), 1, Seite 13 |
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Übergeordnetes Werk: |
volume:14 ; year:2022 ; number:1 ; pages:13 |
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DOI / URN: |
10.1186/s13073-022-01101-2 |
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Katalog-ID: |
DOAJ028157516 |
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520 | |a Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. | ||
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700 | 0 | |a Umut Aypar |e verfasserin |4 aut | |
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700 | 0 | |a Nikita Mehta |e verfasserin |4 aut | |
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700 | 0 | |a Ahmet Zehir |e verfasserin |4 aut | |
700 | 0 | |a Diana Mandelker |e verfasserin |4 aut | |
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10.1186/s13073-022-01101-2 doi (DE-627)DOAJ028157516 (DE-599)DOAJb27ebc51933945dda60cc3917da9b260 DE-627 ger DE-627 rakwb eng QH426-470 Ozge Ceyhan-Birsoy verfasserin aut Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. Medicine R Genetics Gowtham Jayakumaran verfasserin aut Yelena Kemel verfasserin aut Maksym Misyura verfasserin aut Umut Aypar verfasserin aut Sowmya Jairam verfasserin aut Ciyu Yang verfasserin aut Yirong Li verfasserin aut Nikita Mehta verfasserin aut Anna Maio verfasserin aut Angela Arnold verfasserin aut Erin Salo-Mullen verfasserin aut Margaret Sheehan verfasserin aut Aijazuddin Syed verfasserin aut Michael Walsh verfasserin aut Maria Carlo verfasserin aut Mark Robson verfasserin aut Kenneth Offit verfasserin aut Marc Ladanyi verfasserin aut Jorge S. Reis-Filho verfasserin aut Zsofia K. Stadler verfasserin aut Liying Zhang verfasserin aut Alicia Latham verfasserin aut Ahmet Zehir verfasserin aut Diana Mandelker verfasserin aut In Genome Medicine BMC, 2016 14(2022), 1, Seite 13 (DE-627)594424275 (DE-600)2484394-5 1756994X nnns volume:14 year:2022 number:1 pages:13 https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/article/b27ebc51933945dda60cc3917da9b260 kostenfrei https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/toc/1756-994X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_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 14 2022 1 13 |
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10.1186/s13073-022-01101-2 doi (DE-627)DOAJ028157516 (DE-599)DOAJb27ebc51933945dda60cc3917da9b260 DE-627 ger DE-627 rakwb eng QH426-470 Ozge Ceyhan-Birsoy verfasserin aut Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. Medicine R Genetics Gowtham Jayakumaran verfasserin aut Yelena Kemel verfasserin aut Maksym Misyura verfasserin aut Umut Aypar verfasserin aut Sowmya Jairam verfasserin aut Ciyu Yang verfasserin aut Yirong Li verfasserin aut Nikita Mehta verfasserin aut Anna Maio verfasserin aut Angela Arnold verfasserin aut Erin Salo-Mullen verfasserin aut Margaret Sheehan verfasserin aut Aijazuddin Syed verfasserin aut Michael Walsh verfasserin aut Maria Carlo verfasserin aut Mark Robson verfasserin aut Kenneth Offit verfasserin aut Marc Ladanyi verfasserin aut Jorge S. Reis-Filho verfasserin aut Zsofia K. Stadler verfasserin aut Liying Zhang verfasserin aut Alicia Latham verfasserin aut Ahmet Zehir verfasserin aut Diana Mandelker verfasserin aut In Genome Medicine BMC, 2016 14(2022), 1, Seite 13 (DE-627)594424275 (DE-600)2484394-5 1756994X nnns volume:14 year:2022 number:1 pages:13 https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/article/b27ebc51933945dda60cc3917da9b260 kostenfrei https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/toc/1756-994X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_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 14 2022 1 13 |
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10.1186/s13073-022-01101-2 doi (DE-627)DOAJ028157516 (DE-599)DOAJb27ebc51933945dda60cc3917da9b260 DE-627 ger DE-627 rakwb eng QH426-470 Ozge Ceyhan-Birsoy verfasserin aut Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. Medicine R Genetics Gowtham Jayakumaran verfasserin aut Yelena Kemel verfasserin aut Maksym Misyura verfasserin aut Umut Aypar verfasserin aut Sowmya Jairam verfasserin aut Ciyu Yang verfasserin aut Yirong Li verfasserin aut Nikita Mehta verfasserin aut Anna Maio verfasserin aut Angela Arnold verfasserin aut Erin Salo-Mullen verfasserin aut Margaret Sheehan verfasserin aut Aijazuddin Syed verfasserin aut Michael Walsh verfasserin aut Maria Carlo verfasserin aut Mark Robson verfasserin aut Kenneth Offit verfasserin aut Marc Ladanyi verfasserin aut Jorge S. Reis-Filho verfasserin aut Zsofia K. Stadler verfasserin aut Liying Zhang verfasserin aut Alicia Latham verfasserin aut Ahmet Zehir verfasserin aut Diana Mandelker verfasserin aut In Genome Medicine BMC, 2016 14(2022), 1, Seite 13 (DE-627)594424275 (DE-600)2484394-5 1756994X nnns volume:14 year:2022 number:1 pages:13 https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/article/b27ebc51933945dda60cc3917da9b260 kostenfrei https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/toc/1756-994X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_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 14 2022 1 13 |
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10.1186/s13073-022-01101-2 doi (DE-627)DOAJ028157516 (DE-599)DOAJb27ebc51933945dda60cc3917da9b260 DE-627 ger DE-627 rakwb eng QH426-470 Ozge Ceyhan-Birsoy verfasserin aut Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. Medicine R Genetics Gowtham Jayakumaran verfasserin aut Yelena Kemel verfasserin aut Maksym Misyura verfasserin aut Umut Aypar verfasserin aut Sowmya Jairam verfasserin aut Ciyu Yang verfasserin aut Yirong Li verfasserin aut Nikita Mehta verfasserin aut Anna Maio verfasserin aut Angela Arnold verfasserin aut Erin Salo-Mullen verfasserin aut Margaret Sheehan verfasserin aut Aijazuddin Syed verfasserin aut Michael Walsh verfasserin aut Maria Carlo verfasserin aut Mark Robson verfasserin aut Kenneth Offit verfasserin aut Marc Ladanyi verfasserin aut Jorge S. Reis-Filho verfasserin aut Zsofia K. Stadler verfasserin aut Liying Zhang verfasserin aut Alicia Latham verfasserin aut Ahmet Zehir verfasserin aut Diana Mandelker verfasserin aut In Genome Medicine BMC, 2016 14(2022), 1, Seite 13 (DE-627)594424275 (DE-600)2484394-5 1756994X nnns volume:14 year:2022 number:1 pages:13 https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/article/b27ebc51933945dda60cc3917da9b260 kostenfrei https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/toc/1756-994X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_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 14 2022 1 13 |
allfieldsSound |
10.1186/s13073-022-01101-2 doi (DE-627)DOAJ028157516 (DE-599)DOAJb27ebc51933945dda60cc3917da9b260 DE-627 ger DE-627 rakwb eng QH426-470 Ozge Ceyhan-Birsoy verfasserin aut Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. Medicine R Genetics Gowtham Jayakumaran verfasserin aut Yelena Kemel verfasserin aut Maksym Misyura verfasserin aut Umut Aypar verfasserin aut Sowmya Jairam verfasserin aut Ciyu Yang verfasserin aut Yirong Li verfasserin aut Nikita Mehta verfasserin aut Anna Maio verfasserin aut Angela Arnold verfasserin aut Erin Salo-Mullen verfasserin aut Margaret Sheehan verfasserin aut Aijazuddin Syed verfasserin aut Michael Walsh verfasserin aut Maria Carlo verfasserin aut Mark Robson verfasserin aut Kenneth Offit verfasserin aut Marc Ladanyi verfasserin aut Jorge S. Reis-Filho verfasserin aut Zsofia K. Stadler verfasserin aut Liying Zhang verfasserin aut Alicia Latham verfasserin aut Ahmet Zehir verfasserin aut Diana Mandelker verfasserin aut In Genome Medicine BMC, 2016 14(2022), 1, Seite 13 (DE-627)594424275 (DE-600)2484394-5 1756994X nnns volume:14 year:2022 number:1 pages:13 https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/article/b27ebc51933945dda60cc3917da9b260 kostenfrei https://doi.org/10.1186/s13073-022-01101-2 kostenfrei https://doaj.org/toc/1756-994X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_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 14 2022 1 13 |
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Ozge Ceyhan-Birsoy @@aut@@ Gowtham Jayakumaran @@aut@@ Yelena Kemel @@aut@@ Maksym Misyura @@aut@@ Umut Aypar @@aut@@ Sowmya Jairam @@aut@@ Ciyu Yang @@aut@@ Yirong Li @@aut@@ Nikita Mehta @@aut@@ Anna Maio @@aut@@ Angela Arnold @@aut@@ Erin Salo-Mullen @@aut@@ Margaret Sheehan @@aut@@ Aijazuddin Syed @@aut@@ Michael Walsh @@aut@@ Maria Carlo @@aut@@ Mark Robson @@aut@@ Kenneth Offit @@aut@@ Marc Ladanyi @@aut@@ Jorge S. Reis-Filho @@aut@@ Zsofia K. Stadler @@aut@@ Liying Zhang @@aut@@ Alicia Latham @@aut@@ Ahmet Zehir @@aut@@ Diana Mandelker @@aut@@ |
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Ozge Ceyhan-Birsoy Gowtham Jayakumaran Yelena Kemel Maksym Misyura Umut Aypar Sowmya Jairam Ciyu Yang Yirong Li Nikita Mehta Anna Maio Angela Arnold Erin Salo-Mullen Margaret Sheehan Aijazuddin Syed Michael Walsh Maria Carlo Mark Robson Kenneth Offit Marc Ladanyi Jorge S. Reis-Filho Zsofia K. Stadler Liying Zhang Alicia Latham Ahmet Zehir Diana Mandelker |
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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients |
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Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. |
abstractGer |
Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. |
abstract_unstemmed |
Abstract Background Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period. Methods A total of 17,523 cancer patients with a broad range of solid tumors, who received eGT at Memorial Sloan Kettering Cancer Center between July 2015 to April 2020, were included in the study. The patients were unselected for current GT criteria such as cancer type, age of onset, and/or family history of disease. The diagnostic yield of eGT was determined for each cancer type. For 9187 patients with five common cancer types frequently interrogated for hereditary predisposition (breast, colorectal, ovarian, pancreatic, and prostate cancer), the rate of pathogenic/likely pathogenic (P/LP) variants in genes that have been associated with each cancer type was analyzed. The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. The benefits of performing eGT should be weighed against the added number of VUSs identified with this approach. |
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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients |
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The clinical implications of additional findings in genes not known to be associated with a patients’ cancer type were investigated. Results 16.7% of patients in a broad cancer cohort had P/LP variants in hereditary cancer predisposition genes identified by eGT. The diagnostic yield of eGT in patients with breast, colorectal, ovarian, pancreatic, and prostate cancer was 17.5%, 15.3%, 24.2%, 19.4%, and 15.9%, respectively. Additionally, 8% of the patients with five common cancers had P/LP variants in genes not known to be associated with the patient’s current cancer type, with 0.8% of them having such a variant that confers a high risk for another cancer type. Analysis of clinical and family histories revealed that 74% of patients with variants in genes not associated with their current cancer type but which conferred a high risk for another cancer did not meet the current GT criteria for the genes harboring these variants. One or more variants of uncertain significance were identified in 57% of the patients. Conclusions Compared to targeted testing approaches, eGT can increase the yield of detection of hereditary cancer predisposition in patients with a range of tumors, allowing opportunities for enhanced surveillance and intervention. 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