Metadata record for the article: Genetic Epidemiology of BRCA1- and BRCA2-associated Cancer Across Latin America

Summary This metadata record provides details of the data supporting the claims of the related article: “Genetic Epidemiology of BRCA1- and BRCA2-associated Cancer Across Latin America”. The related study reports the results of employing a sequential genetic testing strategy to detect BRCA pathogenic variants (PVs) in a large sample of Latin Americans meeting referral criteria, using a combination of Sequenom MassARRAY technology, Ion Torrent semiconductor sequencing, and PCR-based methodologies for copy number variants (CNVs). Type of data: pathogenic BRCA variants and VUS; clinical data Subject of data: Homo sapiens Population characteristics: Patients seen for genetic cancer risk assessment (GCRA) through Clinical Cancer Genomics Community Research Network (CCGCRN) at 13,46 sites in Latin America between December 2012 and August 2017 were prospectively enrolled after informed consent on an IRB-approved protocol and offered genetic testing. Six Latin American cancer centres were included: 1) Instituto Nacional de Cancerlogía (INCan) in Mexico City, Mexico; 2) Instituto Jalisciense de Cancerologia, in Guadalajara, Mexico; 3) Instituto des Enfermedades Neoplásicas (INEN) in Lima, Peru; 4) Clínica del Country, Oncology Center, in Bogota, Colombia; 5) The University of Puerto Rico and MD Anderson Cancer Center in San Juan, Puerto Rico; 6) Hospital de Clínicas de Porto Alegre in Porto Alegre, Brazil. Patients met the National Comprehensive Cancer Network (NCCN) guidelines for genetic/familial high-risk assessment: breast and ovarian. Demographic characteristics, clinical variables and four-generation pedigrees focused on family cancer history were obtained. When more than one person was enrolled and tested in a family, the first person tested was selected for inclusion in study. Trial registration number: NCT04185935 Data access The pathogenic BRCA variants and VUS data are included as separate tabs in ‘Supplemental tables 2 and 3.xlsx’, which is available via the online version of the related article as well as in Excel format as part of this data record. Unique variants have been deposited in ClinVar under accessions https://identifiers.org/clinvar.submission:SCV001739435 to https://identifiers.org/clinvar.submission:SCV001739444. The minimum dataset necessary to interpret, replicate and/or build upon the methods of the related article will be made available upon request to the corresponding author. Corresponding author(s) for this study Jeffrey N. Weitzel, M.D., 578 Acacia Street, Sierra Madre, CA 91024, USA. [e-mail] Phone: [phone] Study approval The overall protocol was approved by the IRB at City of Hope (#96144) data coordinating center, and approved separately, as a Federated consortium at each participating center.