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

<b>Summary</b><br>

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: <i>Homo sapiens</i>

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

<b>Data
access</b>

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 <i>ClinVar </i>under accessions https://identifiers.org/clinvar.submission:SCV001739435
to <br>
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.

<b>Corresponding author(s) for this study</b>

Jeffrey
N. Weitzel, M.D., 578 Acacia Street, Sierra Madre, CA 91024, USA. [e-mail]
Phone: [phone]<br>
<br>
<b></b>

<b>Study
approval </b>

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.