| Autor: |
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 |
| Jazyk: |
English<br />Spanish; Castilian |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Salud Pública de México, Vol 64, Iss 1, Pp 41-48 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
0036-3634 |
| DOI: |
10.21149/12704 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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