Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America

Abstract 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 Rese...

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Autores principales:	Josef S. Herzog, Yanin Chavarri-Guerra, Danielle Castillo, Julio Abugattas, Cynthia Villarreal-Garza, Sharon Sand, Jessica Clague-Dehart, Rosa M. Alvarez-Gómez, Talia Wegman-Ostrosky, Alejandro Mohar, Pamela Mora, Azucena Del Toro-Valero, Adrian Daneri-Navarro, Yenni Rodriguez, Marcia Cruz-Correa, Patricia Ashton-Prolla, Bárbara Alemar, Rosa Mejia, Lenny Gallardo, Robin Shaw, Kai Yang, Aleck Cervantes, Kevin Tsang, Bita Nehoray, Hugo Barrera Saldana, Susan Neuhausen, Jeffrey N. Weitzel
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/cf08a7f700d74cf8b958e3c34a9237a2
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spelling	oai:doaj.org-article:cf08a7f700d74cf8b958e3c34a9237a22021-12-02T15:10:35ZGenetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America10.1038/s41523-021-00317-62374-4677https://doaj.org/article/cf08a7f700d74cf8b958e3c34a9237a22021-08-01T00:00:00Zhttps://doi.org/10.1038/s41523-021-00317-6https://doaj.org/toc/2374-4677Abstract 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.Josef S. HerzogYanin Chavarri-GuerraDanielle CastilloJulio AbugattasCynthia Villarreal-GarzaSharon SandJessica Clague-DehartRosa M. Alvarez-GómezTalia Wegman-OstroskyAlejandro MoharPamela MoraAzucena Del Toro-ValeroAdrian Daneri-NavarroYenni RodriguezMarcia Cruz-CorreaPatricia Ashton-ProllaBárbara AlemarRosa MejiaLenny GallardoRobin ShawKai YangAleck CervantesKevin TsangBita NehorayHugo Barrera SaldanaSusan NeuhausenJeffrey N. WeitzelNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Breast Cancer, Vol 7, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Josef S. Herzog Yanin Chavarri-Guerra Danielle Castillo Julio Abugattas Cynthia Villarreal-Garza Sharon Sand Jessica Clague-Dehart Rosa M. Alvarez-Gómez Talia Wegman-Ostrosky Alejandro Mohar Pamela Mora Azucena Del Toro-Valero Adrian Daneri-Navarro Yenni Rodriguez Marcia Cruz-Correa Patricia Ashton-Prolla Bárbara Alemar Rosa Mejia Lenny Gallardo Robin Shaw Kai Yang Aleck Cervantes Kevin Tsang Bita Nehoray Hugo Barrera Saldana Susan Neuhausen Jeffrey N. Weitzel Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
description	Abstract 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.
format	article
author	Josef S. Herzog Yanin Chavarri-Guerra Danielle Castillo Julio Abugattas Cynthia Villarreal-Garza Sharon Sand Jessica Clague-Dehart Rosa M. Alvarez-Gómez Talia Wegman-Ostrosky Alejandro Mohar Pamela Mora Azucena Del Toro-Valero Adrian Daneri-Navarro Yenni Rodriguez Marcia Cruz-Correa Patricia Ashton-Prolla Bárbara Alemar Rosa Mejia Lenny Gallardo Robin Shaw Kai Yang Aleck Cervantes Kevin Tsang Bita Nehoray Hugo Barrera Saldana Susan Neuhausen Jeffrey N. Weitzel
author_facet	Josef S. Herzog Yanin Chavarri-Guerra Danielle Castillo Julio Abugattas Cynthia Villarreal-Garza Sharon Sand Jessica Clague-Dehart Rosa M. Alvarez-Gómez Talia Wegman-Ostrosky Alejandro Mohar Pamela Mora Azucena Del Toro-Valero Adrian Daneri-Navarro Yenni Rodriguez Marcia Cruz-Correa Patricia Ashton-Prolla Bárbara Alemar Rosa Mejia Lenny Gallardo Robin Shaw Kai Yang Aleck Cervantes Kevin Tsang Bita Nehoray Hugo Barrera Saldana Susan Neuhausen Jeffrey N. Weitzel
author_sort	Josef S. Herzog
title	Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
title_short	Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
title_full	Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
title_fullStr	Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
title_full_unstemmed	Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
title_sort	genetic epidemiology of brca1- and brca2-associated cancer across latin america
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/cf08a7f700d74cf8b958e3c34a9237a2
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Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America

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