Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
| العنوان: | Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America |
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| المؤلفون: | Jeffrey N. Weitzel, Patricia Ashton-Prolla, Sharon Sand, Kai Yang, Danielle Castillo, Hugo Alberto Barrera Saldaña, Cynthia Villarreal-Garza, Adrian Daneri-Navarro, Marcia Cruz-Correa, Rosa Mejia, Rosa María Álvarez-Gómez, Alejandro Mohar, Pamela Mora, Lenny Gallardo, Aleck Cervantes, Kevin Karwing Tsang, Josef Herzog, Bita Nehoray, Robin J. Shaw, Yenni Rodriguez, Azucena Del Toro-Valero, Yanin Chavarri-Guerra, Bárbara Alemar, Jessica Clague-Dehart, Susan L. Neuhausen, Julio Abugattas, Talia Wegman-Ostrosky |
| المصدر: | npj Breast Cancer, Vol 7, Iss 1, Pp 1-8 (2021) NPJ Breast Cancer |
| بيانات النشر: | Nature Portfolio, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Latin Americans, Genetic testing, endocrine system diseases, business.industry, Cancer, Health sciences, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Diagnostic markers, Brca testing, medicine.disease, Article, Oncology, Genetic epidemiology, Mutation probability, medicine, Cancer burden, cardiovascular system, Pharmacology (medical), Radiology, Nuclear Medicine and imaging, Copy-number variation, business, skin and connective tissue diseases, Area under the roc curve, RC254-282, Demography |
| الوصف: | The prevalence and contribution of BRCA1/2 (BRCA) pathogenic variants (PVs) to the cancer burden in Latin America are not well understood. This study aims to address this disparity. BRCA analyses were performed on prospectively enrolled Latin American Clinical Cancer Genomics Community Research Network participants via a combination of methods: a Hispanic Mutation Panel (HISPANEL) on MassARRAY; semiconductor sequencing; and copy number variant (CNV) detection. BRCA PV probability was calculated using BRCAPRO. Among 1,627 participants (95.2% with cancer), we detected 236 (14.5%) BRCA PVs; 160 BRCA1 (31% CNVs); 76 BRCA2 PV frequency varied by country: 26% Brazil, 9% Colombia, 13% Peru, and 17% Mexico. Recurrent PVs (seen ≥3 times), some region-specific, represented 42.8% (101/236) of PVs. There was no ClinVar entry for 14% (17/125) of unique PVs, and 57% (111/196) of unique VUS. The area under the ROC curve for BRCAPRO was 0.76. In summary, we implemented a low-cost BRCA testing strategy and documented a significant burden of non-ClinVar reported BRCA PVs among Latin Americans. There are recurrent, population-specific PVs and CNVs, and we note that the BRCAPRO mutation probability model performs adequately. This study helps address the gap in our understanding of BRCA-associated cancer in Latin America. |
| اللغة: | English |
| تدمد: | 2374-4677 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3ae76bf6c4341952cbc8f92e482b22Test https://doaj.org/article/cf08a7f700d74cf8b958e3c34a9237a2Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2e3ae76bf6c4341952cbc8f92e482b22 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23744677 |
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