Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies
Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breas...
Ausführliche Beschreibung
Autor*in: |
Godinez Paredes, Jesica M [verfasserIn] Rodriguez, Isabel [verfasserIn] Ren, Megan [verfasserIn] Orozco, Anali [verfasserIn] Ortiz, Jeremy [verfasserIn] Albanez, Anaseidy [verfasserIn] Jones, Catherine [verfasserIn] Nahleh, Zeina [verfasserIn] Barreda, Lilian [verfasserIn] Garland, Lisa [verfasserIn] Torres-Gonzalez, Edmundo [verfasserIn] Wu, Dongjing [verfasserIn] Luo, Wen [verfasserIn] Liu, Jia [verfasserIn] Argueta, Victor [verfasserIn] Orozco, Roberto [verfasserIn] Gharzouzi, Eduardo [verfasserIn] Dean, Michael [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2024 |
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Schlagwörter: |
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Anmerkung: |
© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 |
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Übergeordnetes Werk: |
Enthalten in: Breast cancer research and treatment - Springer US, 1981, 205(2024), 3 vom: 23. März, Seite 567-577 |
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Übergeordnetes Werk: |
volume:205 ; year:2024 ; number:3 ; day:23 ; month:03 ; pages:567-577 |
Links: |
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DOI / URN: |
10.1007/s10549-024-07300-2 |
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Katalog-ID: |
SPR05589402X |
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245 | 1 | 0 | |a Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies |
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520 | |a Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. | ||
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650 | 4 | |a Pathogenic variants |7 (dpeaa)DE-He213 | |
650 | 4 | |a Latin America |7 (dpeaa)DE-He213 | |
650 | 4 | |a Health disparities |7 (dpeaa)DE-He213 | |
650 | 4 | |a Global health |7 (dpeaa)DE-He213 | |
650 | 4 | |a Socioeconomic |7 (dpeaa)DE-He213 | |
650 | 4 | |a Mammography |7 (dpeaa)DE-He213 | |
650 | 4 | |a Hereditary |7 (dpeaa)DE-He213 | |
650 | 4 | |a Breast cancer |7 (dpeaa)DE-He213 | |
650 | 4 | |a Triple-negative |7 (dpeaa)DE-He213 | |
700 | 1 | |a Rodriguez, Isabel |e verfasserin |4 aut | |
700 | 1 | |a Ren, Megan |e verfasserin |4 aut | |
700 | 1 | |a Orozco, Anali |e verfasserin |4 aut | |
700 | 1 | |a Ortiz, Jeremy |e verfasserin |4 aut | |
700 | 1 | |a Albanez, Anaseidy |e verfasserin |4 aut | |
700 | 1 | |a Jones, Catherine |e verfasserin |4 aut | |
700 | 1 | |a Nahleh, Zeina |e verfasserin |4 aut | |
700 | 1 | |a Barreda, Lilian |e verfasserin |4 aut | |
700 | 1 | |a Garland, Lisa |e verfasserin |4 aut | |
700 | 1 | |a Torres-Gonzalez, Edmundo |e verfasserin |4 aut | |
700 | 1 | |a Wu, Dongjing |e verfasserin |4 aut | |
700 | 1 | |a Luo, Wen |e verfasserin |4 aut | |
700 | 1 | |a Liu, Jia |e verfasserin |4 aut | |
700 | 1 | |a Argueta, Victor |e verfasserin |4 aut | |
700 | 1 | |a Orozco, Roberto |e verfasserin |4 aut | |
700 | 1 | |a Gharzouzi, Eduardo |e verfasserin |4 aut | |
700 | 1 | |a Dean, Michael |e verfasserin |0 (orcid)0000-0003-2234-0631 |4 aut | |
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10.1007/s10549-024-07300-2 doi (DE-627)SPR05589402X (SPR)s10549-024-07300-2-e DE-627 ger DE-627 rakwb eng 610 VZ 44.92 bkl Godinez Paredes, Jesica M verfasserin aut Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. Early age (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Latin America (dpeaa)DE-He213 Health disparities (dpeaa)DE-He213 Global health (dpeaa)DE-He213 Socioeconomic (dpeaa)DE-He213 Mammography (dpeaa)DE-He213 Hereditary (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Triple-negative (dpeaa)DE-He213 Rodriguez, Isabel verfasserin aut Ren, Megan verfasserin aut Orozco, Anali verfasserin aut Ortiz, Jeremy verfasserin aut Albanez, Anaseidy verfasserin aut Jones, Catherine verfasserin aut Nahleh, Zeina verfasserin aut Barreda, Lilian verfasserin aut Garland, Lisa verfasserin aut Torres-Gonzalez, Edmundo verfasserin aut Wu, Dongjing verfasserin aut Luo, Wen verfasserin aut Liu, Jia verfasserin aut Argueta, Victor verfasserin aut Orozco, Roberto verfasserin aut Gharzouzi, Eduardo verfasserin aut Dean, Michael verfasserin (orcid)0000-0003-2234-0631 aut Enthalten in Breast cancer research and treatment Springer US, 1981 205(2024), 3 vom: 23. März, Seite 567-577 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:205 year:2024 number:3 day:23 month:03 pages:567-577 https://dx.doi.org/10.1007/s10549-024-07300-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 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_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 VZ AR 205 2024 3 23 03 567-577 |
spelling |
10.1007/s10549-024-07300-2 doi (DE-627)SPR05589402X (SPR)s10549-024-07300-2-e DE-627 ger DE-627 rakwb eng 610 VZ 44.92 bkl Godinez Paredes, Jesica M verfasserin aut Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. Early age (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Latin America (dpeaa)DE-He213 Health disparities (dpeaa)DE-He213 Global health (dpeaa)DE-He213 Socioeconomic (dpeaa)DE-He213 Mammography (dpeaa)DE-He213 Hereditary (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Triple-negative (dpeaa)DE-He213 Rodriguez, Isabel verfasserin aut Ren, Megan verfasserin aut Orozco, Anali verfasserin aut Ortiz, Jeremy verfasserin aut Albanez, Anaseidy verfasserin aut Jones, Catherine verfasserin aut Nahleh, Zeina verfasserin aut Barreda, Lilian verfasserin aut Garland, Lisa verfasserin aut Torres-Gonzalez, Edmundo verfasserin aut Wu, Dongjing verfasserin aut Luo, Wen verfasserin aut Liu, Jia verfasserin aut Argueta, Victor verfasserin aut Orozco, Roberto verfasserin aut Gharzouzi, Eduardo verfasserin aut Dean, Michael verfasserin (orcid)0000-0003-2234-0631 aut Enthalten in Breast cancer research and treatment Springer US, 1981 205(2024), 3 vom: 23. März, Seite 567-577 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:205 year:2024 number:3 day:23 month:03 pages:567-577 https://dx.doi.org/10.1007/s10549-024-07300-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 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_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 VZ AR 205 2024 3 23 03 567-577 |
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10.1007/s10549-024-07300-2 doi (DE-627)SPR05589402X (SPR)s10549-024-07300-2-e DE-627 ger DE-627 rakwb eng 610 VZ 44.92 bkl Godinez Paredes, Jesica M verfasserin aut Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. Early age (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Latin America (dpeaa)DE-He213 Health disparities (dpeaa)DE-He213 Global health (dpeaa)DE-He213 Socioeconomic (dpeaa)DE-He213 Mammography (dpeaa)DE-He213 Hereditary (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Triple-negative (dpeaa)DE-He213 Rodriguez, Isabel verfasserin aut Ren, Megan verfasserin aut Orozco, Anali verfasserin aut Ortiz, Jeremy verfasserin aut Albanez, Anaseidy verfasserin aut Jones, Catherine verfasserin aut Nahleh, Zeina verfasserin aut Barreda, Lilian verfasserin aut Garland, Lisa verfasserin aut Torres-Gonzalez, Edmundo verfasserin aut Wu, Dongjing verfasserin aut Luo, Wen verfasserin aut Liu, Jia verfasserin aut Argueta, Victor verfasserin aut Orozco, Roberto verfasserin aut Gharzouzi, Eduardo verfasserin aut Dean, Michael verfasserin (orcid)0000-0003-2234-0631 aut Enthalten in Breast cancer research and treatment Springer US, 1981 205(2024), 3 vom: 23. März, Seite 567-577 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:205 year:2024 number:3 day:23 month:03 pages:567-577 https://dx.doi.org/10.1007/s10549-024-07300-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 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_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 VZ AR 205 2024 3 23 03 567-577 |
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10.1007/s10549-024-07300-2 doi (DE-627)SPR05589402X (SPR)s10549-024-07300-2-e DE-627 ger DE-627 rakwb eng 610 VZ 44.92 bkl Godinez Paredes, Jesica M verfasserin aut Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. Early age (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Latin America (dpeaa)DE-He213 Health disparities (dpeaa)DE-He213 Global health (dpeaa)DE-He213 Socioeconomic (dpeaa)DE-He213 Mammography (dpeaa)DE-He213 Hereditary (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Triple-negative (dpeaa)DE-He213 Rodriguez, Isabel verfasserin aut Ren, Megan verfasserin aut Orozco, Anali verfasserin aut Ortiz, Jeremy verfasserin aut Albanez, Anaseidy verfasserin aut Jones, Catherine verfasserin aut Nahleh, Zeina verfasserin aut Barreda, Lilian verfasserin aut Garland, Lisa verfasserin aut Torres-Gonzalez, Edmundo verfasserin aut Wu, Dongjing verfasserin aut Luo, Wen verfasserin aut Liu, Jia verfasserin aut Argueta, Victor verfasserin aut Orozco, Roberto verfasserin aut Gharzouzi, Eduardo verfasserin aut Dean, Michael verfasserin (orcid)0000-0003-2234-0631 aut Enthalten in Breast cancer research and treatment Springer US, 1981 205(2024), 3 vom: 23. März, Seite 567-577 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:205 year:2024 number:3 day:23 month:03 pages:567-577 https://dx.doi.org/10.1007/s10549-024-07300-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 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_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 VZ AR 205 2024 3 23 03 567-577 |
allfieldsSound |
10.1007/s10549-024-07300-2 doi (DE-627)SPR05589402X (SPR)s10549-024-07300-2-e DE-627 ger DE-627 rakwb eng 610 VZ 44.92 bkl Godinez Paredes, Jesica M verfasserin aut Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. Early age (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Latin America (dpeaa)DE-He213 Health disparities (dpeaa)DE-He213 Global health (dpeaa)DE-He213 Socioeconomic (dpeaa)DE-He213 Mammography (dpeaa)DE-He213 Hereditary (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Triple-negative (dpeaa)DE-He213 Rodriguez, Isabel verfasserin aut Ren, Megan verfasserin aut Orozco, Anali verfasserin aut Ortiz, Jeremy verfasserin aut Albanez, Anaseidy verfasserin aut Jones, Catherine verfasserin aut Nahleh, Zeina verfasserin aut Barreda, Lilian verfasserin aut Garland, Lisa verfasserin aut Torres-Gonzalez, Edmundo verfasserin aut Wu, Dongjing verfasserin aut Luo, Wen verfasserin aut Liu, Jia verfasserin aut Argueta, Victor verfasserin aut Orozco, Roberto verfasserin aut Gharzouzi, Eduardo verfasserin aut Dean, Michael verfasserin (orcid)0000-0003-2234-0631 aut Enthalten in Breast cancer research and treatment Springer US, 1981 205(2024), 3 vom: 23. März, Seite 567-577 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:205 year:2024 number:3 day:23 month:03 pages:567-577 https://dx.doi.org/10.1007/s10549-024-07300-2 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 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_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 VZ AR 205 2024 3 23 03 567-577 |
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Enthalten in Breast cancer research and treatment 205(2024), 3 vom: 23. März, Seite 567-577 volume:205 year:2024 number:3 day:23 month:03 pages:567-577 |
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Enthalten in Breast cancer research and treatment 205(2024), 3 vom: 23. März, Seite 567-577 volume:205 year:2024 number:3 day:23 month:03 pages:567-577 |
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Godinez Paredes, Jesica M @@aut@@ Rodriguez, Isabel @@aut@@ Ren, Megan @@aut@@ Orozco, Anali @@aut@@ Ortiz, Jeremy @@aut@@ Albanez, Anaseidy @@aut@@ Jones, Catherine @@aut@@ Nahleh, Zeina @@aut@@ Barreda, Lilian @@aut@@ Garland, Lisa @@aut@@ Torres-Gonzalez, Edmundo @@aut@@ Wu, Dongjing @@aut@@ Luo, Wen @@aut@@ Liu, Jia @@aut@@ Argueta, Victor @@aut@@ Orozco, Roberto @@aut@@ Gharzouzi, Eduardo @@aut@@ Dean, Michael @@aut@@ |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000naa a22002652 4500</leader><controlfield tag="001">SPR05589402X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240518064649.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">240518s2024 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s10549-024-07300-2</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR05589402X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s10549-024-07300-2-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.92</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Godinez Paredes, Jesica M</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2024</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. 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author |
Godinez Paredes, Jesica M |
spellingShingle |
Godinez Paredes, Jesica M ddc 610 bkl 44.92 misc Early age misc Pathogenic variants misc Latin America misc Health disparities misc Global health misc Socioeconomic misc Mammography misc Hereditary misc Breast cancer misc Triple-negative Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies |
authorStr |
Godinez Paredes, Jesica M |
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Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies |
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Godinez Paredes, Jesica M Rodriguez, Isabel Ren, Megan Orozco, Anali Ortiz, Jeremy Albanez, Anaseidy Jones, Catherine Nahleh, Zeina Barreda, Lilian Garland, Lisa Torres-Gonzalez, Edmundo Wu, Dongjing Luo, Wen Liu, Jia Argueta, Victor Orozco, Roberto Gharzouzi, Eduardo Dean, Michael |
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germline pathogenic variants associated with triple-negative breast cancer in us hispanic and guatemalan women using hospital and community-based recruitment strategies |
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Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies |
abstract |
Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 |
abstractGer |
Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 |
abstract_unstemmed |
Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women. © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 |
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Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies |
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Rodriguez, Isabel Ren, Megan Orozco, Anali Ortiz, Jeremy Albanez, Anaseidy Jones, Catherine Nahleh, Zeina Barreda, Lilian Garland, Lisa Torres-Gonzalez, Edmundo Wu, Dongjing Luo, Wen Liu, Jia Argueta, Victor Orozco, Roberto Gharzouzi, Eduardo Dean, Michael |
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score |
7.3998823 |