Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study
Average rating
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
Your vote was cast
Thank you for your feedback
Thank you for your feedback
Autor
Ossa Gomez, Carlos AndrésAchatz, 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
Fecha de publicación
2022-07-01Palabras clave
Breast NeoplasmsCarcinoma, Ovarian Epithelial
Cross-Sectional Studies
Female
Germ Cells
Hispanic or Latino
Humans
Latin America
Male
Ovarian Neoplasms
Prevalence
United States
Metadatos
Mostrar el registro completo del ítemEditorial
NLM (Medline)Journal
JCO global oncologyDOI
10.1200/GO.22.00104Enlaces adicionales
https://ascopubs.org/doi/10.1200/GO.22.00104Resumen
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.Tipo
info:eu-repo/semantics/articleDerechos
info:eu-repo/semantics/openAccessAttribution-NonCommercial-ShareAlike 4.0 International
Idioma
engEISSN
26878941ae974a485f413a2113503eed53cd6c53
10.1200/GO.22.00104
Scopus Count
Colecciones
El ítem tiene asociados los siguientes ficheros de licencia:
- Creative Commons
Excepto si se señala otra cosa, la licencia del ítem se describe como info:eu-repo/semantics/openAccess