Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer
Objective. Describe the prevalence of breast cancer (BC)- associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC). Materials and methods. The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent gene...
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| Format: | Article |
| Language: | English |
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Instituto Nacional de Salud Pública
2022-02-01
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| Series: | Salud Pública de México |
| Subjects: | |
| Online Access: | https://www.saludpublica.mx/index.php/spm/article/view/12704 |
| _version_ | 1798031554672328704 |
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| author | Yanin Chavarri-Guerra Cynthia Villarreal-Garza Ana S Ferrigno Alejandro Mohar Dione Aguilar Rosa M Alvarez-Gomez Lenny Gallardo-Alvarado Azucena del Toro-Valero Gregorio Quintero-Beulo Francisco Gutierrez-Delgado José Luis Rodriguez-Olivares Maria Fernanda Ochoa-Chavez Gubidxa Gutierrez-Seymour Danielle Castillo Josef Herzog Jeffrey N Weitzel |
| author_facet | Yanin Chavarri-Guerra Cynthia Villarreal-Garza Ana S Ferrigno Alejandro Mohar Dione Aguilar Rosa M Alvarez-Gomez Lenny Gallardo-Alvarado Azucena del Toro-Valero Gregorio Quintero-Beulo Francisco Gutierrez-Delgado José Luis Rodriguez-Olivares Maria Fernanda Ochoa-Chavez Gubidxa Gutierrez-Seymour Danielle Castillo Josef Herzog Jeffrey N Weitzel |
| author_sort | Yanin Chavarri-Guerra |
| collection | DOAJ |
| description | Objective. Describe the prevalence of breast cancer (BC)- associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC). Materials and methods. The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed. Results. Of 387 patients with invasive TNBC and a median age at diagnosis of 39 years (range 21-72), 113 (29%) were carriers of PVs in BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), and other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, and TP53). PV carriers were younger at BC diagnosis (37 vs. 40 years, p=0.004) than non-carriers. Conclusion. A large proportion of TNBC in Mexican patients is associated with germline PVs, the vast majority in BRCA. The incremental yield of PVs in other BC-susceptibility genes was modest, and a stepwise approach starting with BRCA testing may be justified if it is more cost-effective than multigene panel testing. |
| first_indexed | 2024-04-11T19:58:15Z |
| format | Article |
| id | doaj.art-92d21866689548dfa42a2745b1bfde85 |
| institution | Directory Open Access Journal |
| issn | 0036-3634 |
| language | English |
| last_indexed | 2024-04-11T19:58:15Z |
| publishDate | 2022-02-01 |
| publisher | Instituto Nacional de Salud Pública |
| record_format | Article |
| series | Salud Pública de México |
| spelling | doaj.art-92d21866689548dfa42a2745b1bfde852022-12-22T04:05:49ZengInstituto Nacional de Salud PúblicaSalud Pública de México0036-36342022-02-01641414810.21149/1270411589Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancerYanin Chavarri-Guerra0Cynthia Villarreal-Garza1Ana S Ferrigno2Alejandro Mohar3Dione Aguilar4Rosa M Alvarez-Gomez5Lenny Gallardo-Alvarado6Azucena del Toro-Valero7Gregorio Quintero-Beulo8Francisco Gutierrez-Delgado9José Luis Rodriguez-Olivares10Maria Fernanda Ochoa-Chavez11Gubidxa Gutierrez-Seymour12Danielle Castillo13Josef Herzog14Jeffrey N Weitzel15Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Mexico City, MexicoCentro de Cáncer de Mama, Hospital Zambrano Hellion TecSalud, Tecnológico de Monterrey. San Pedro Garza García, Nuevo León, Mexico. / Instituto Nacional de Cancerología. Mexico City, MexicoCentro de Cáncer de Mama, Hospital Zambrano Hellion TecSalud, Tecnológico de Monterrey. San Pedro Garza García, Nuevo León, Mexico.Unidad de Investigación Biomédica en Cáncer (Instituto de Investigaciones Biomédicas, UNAM / Dirección de Investigación, Instituto Nacional de Cancerología). Mexico City, Mexico.Centro de Cáncer de Mama, Hospital Zambrano Hellion TecSalud, Tecnológico de Monterrey. San Pedro Garza García, Nuevo León, Mexico.Instituto Nacional de Cancerología. Mexico City, MexicoInstituto Nacional de Cancerología. Mexico City, MexicoUniversidad de Guadalajara. Guadalajara, Jalisco, Mexico / Instituto Jalisciense de Cancerología. Guadalajara, Jalisco, MexicoHospital General de México Dr. Eduardo Liceaga. Mexico City, MexicoCentro de Estudios y Prevención del Cáncer. Tuxtla Gutiérrez, Chiapas, MexicoInstituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Mexico City, MexicoInstituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Mexico City, MexicoCity of Hope National Medical Center. Duarte, California, USACity of Hope National Medical Center. Duarte, California, USACity of Hope National Medical Center. Duarte, California, USALatin American School of Oncology. Sierra Madre, California, USAObjective. Describe the prevalence of breast cancer (BC)- associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC). Materials and methods. The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed. Results. Of 387 patients with invasive TNBC and a median age at diagnosis of 39 years (range 21-72), 113 (29%) were carriers of PVs in BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), and other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, and TP53). PV carriers were younger at BC diagnosis (37 vs. 40 years, p=0.004) than non-carriers. Conclusion. A large proportion of TNBC in Mexican patients is associated with germline PVs, the vast majority in BRCA. The incremental yield of PVs in other BC-susceptibility genes was modest, and a stepwise approach starting with BRCA testing may be justified if it is more cost-effective than multigene panel testing.https://www.saludpublica.mx/index.php/spm/article/view/12704breast cancertriple-negativegermline mutationpathogenic variantsgenetic cancer risk assessmentbrcacovid-19, autism, pandemic, disability, support services, mexico |
| spellingShingle | Yanin Chavarri-Guerra Cynthia Villarreal-Garza Ana S Ferrigno Alejandro Mohar Dione Aguilar Rosa M Alvarez-Gomez Lenny Gallardo-Alvarado Azucena del Toro-Valero Gregorio Quintero-Beulo Francisco Gutierrez-Delgado José Luis Rodriguez-Olivares Maria Fernanda Ochoa-Chavez Gubidxa Gutierrez-Seymour Danielle Castillo Josef Herzog Jeffrey N Weitzel Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer Salud Pública de México breast cancer triple-negative germline mutation pathogenic variants genetic cancer risk assessment brca covid-19, autism, pandemic, disability, support services, mexico |
| title | Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer |
| title_full | Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer |
| title_fullStr | Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer |
| title_full_unstemmed | Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer |
| title_short | Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer |
| title_sort | germline pathogenic variants in mexican patients with hereditary triple negative breast cancer |
| topic | breast cancer triple-negative germline mutation pathogenic variants genetic cancer risk assessment brca covid-19, autism, pandemic, disability, support services, mexico |
| url | https://www.saludpublica.mx/index.php/spm/article/view/12704 |
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