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| DOI | 10.1200/GO.22.00104 | ||||
| Año | 2022 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
PURPOSE: To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals from the United States. METHODS: In this cross-sectional study, unrelated individuals with a personal/family history suggestive of HBOC who received clinician-ordered germline multigene sequencing were grouped according to the location of the ordering physician: group A, Mexico, Central America, and the Caribbean; group B, South America; and group C, United States with individuals who self-reported Hispanic ethnicity. Relatives who underwent cascade testing were analyzed separately. RESULTS: Among 24,075 unrelated probands across all regions, most were female (94.9%) and reported a personal history suggestive of HBOC (range, 65.0%-80.6%); the mean age at testing was 49.1 ± 13.1 years. The average number of genes analyzed per patient was highest in group A (A 63 ± 28, B 56 ± 29, and C 40 ± 28). Between 9.1% and 18.7% of patients had pathogenic germline variants in HBOC genes (highest yield in group A), with the majority associated with high HBOC risk. Compared with US Hispanics individuals the overall yield was significantly higher in both Latin American regions (A v C P = 1.64×10-9, B v C P < 2.2×10-16). Rates of variants of uncertain significance were similar across all three regions (33.7%-42.6%). Cascade testing uptake was low in all regions (A 6.6%, B 4.5%, and C 1.9%). CONCLUSION: This study highlights the importance of multigene panel testing in Latin American individuals with newly diagnosed or history of HBOC, who can benefit from medical management changes including targeted therapies, eligibility to clinical trials, risk-reducing surgeries, surveillance and prevention of secondary malignancy, and genetic counseling and subsequent cascade testing of at-risk relatives.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Ossa Gomez, Carlos Andrés | Hombre |
Hospital Universitario General de Medellín - Colombia
Hosp Univ Gen Medellin - Colombia |
| 2 | Infante, Mar | Mujer |
Hospital Sirio-Libanês - Brasil
Hosp Sirio Libanes - Brasil |
| 3 | HURTADO-MARTINEZ, MABEL | Mujer |
Fundación Arturo López Pérez - Chile
Fdn Arturo Lopez Perez - Chile |
| 4 | Sanabria-Salas, María Carolina | Mujer |
Subdirección de Investigaciones - Instituto Nacional de Cancerología - Colombia
INST NACL CANCEROL - Colombia Instituto Nacional de Cancerología - Colombia |
| 5 | Sullcahuaman, Yasser | Hombre |
Universidad Peruana de Ciencias Aplicadas - Perú
Instituto de Investigación Genomica - Perú Univ Peruana Ciencias Aplicadas - Perú Inst Invest Genom - Perú |
| 6 | Chávarri-Guerra, Yanin | - |
Instituto Nacional de la Nutrición Salvador Zubiran - México
Inst Nacl Ciencias Med & Nutr Salvador Zubiran - México |
| 7 | Dutil, Julie | Mujer |
Ponce Health Sciences University - Puerto Rico
Ponce Hlth Sci Univ - Estados Unidos |
| 8 | Nielsen, Sarah M. | Mujer |
Invitae Corporation - Estados Unidos
INVITAE - Estados Unidos |
| 9 | Esplin, Edward D. | Hombre |
Invitae Corporation - Estados Unidos
INVITAE - Estados Unidos |
| 10 | Michalski, Scott T. | Hombre |
Invitae Corporation - Estados Unidos
INVITAE - Estados Unidos |
| 11 | Bristow, Sara L. | Mujer |
Invitae Corporation - Estados Unidos
INVITAE - Estados Unidos |
| 12 | Hatchell, Kathryn E. | Mujer |
Invitae Corporation - Estados Unidos
INVITAE - Estados Unidos |
| 13 | Nussbaum, Robert L. | Hombre |
Invitae Corporation - Estados Unidos
INVITAE - Estados Unidos |
| 14 | Pineda-Alvarez, Daniel E. | Hombre |
Invitae Corporation - Estados Unidos
INVITAE - Estados Unidos |
| 15 | Ashton-Prolla, Patricia | Mujer |
Universidade Federal do Rio Grande do Sul - Brasil
Hospital de Clínicas de Porto Alegre - Brasil Univ Fed Rio Grande do Sul - Brasil Hosp Clin Porto Alegre - Brasil |