Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study

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, unre...

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Detalles Bibliográficos
Autores: Ossa Gomez, Carlos Andrés, Achatz, Maria Isabel, Hurtado, Mabel, Sanabria-Salas, María Carolina, Sullcahuaman, Yasser, Chávarri-Guerra, Yanin, Dutil, Julie, Nielsen, Sarah M., Esplin, Edward D., Michalski, Scott T., Bristow, Sara L., Hatchell, Kathryn E., Nussbaum, Robert L., Pineda-Alvarez, Daniel E., Ashton-Prolla, Patricia
Tipo de recurso: artículo
Fecha de publicación:2022
País:Perú
Institución:Universidad Peruana de Ciencias Aplicadas
Repositorio:UPC-Institucional
Idioma:inglés
OAI Identifier:oai:repositorioacademico.upc.edu.pe:10757/660925
Acceso en línea:https://doi.org/10.1200/GO.22.00104
http://hdl.handle.net/10757/660925
Access Level:acceso abierto
Palabra clave:Breast Neoplasms
Carcinoma, Ovarian Epithelial
Cross-Sectional Studies
Female
Germ Cells
Hispanic or Latino
Humans
Latin America
Male
Ovarian Neoplasms
Prevalence
United States
https://purl.org/pe-repo/ocde/ford#3.00.00
Descripción
Sumario: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.

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