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

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Josef S. Herzog ◽  
Yanin Chavarri-Guerra ◽  
Danielle Castillo ◽  
Julio Abugattas ◽  
Cynthia Villarreal-Garza ◽  
...  
Keyword(s):  
Latin America ◽  
Latin American ◽  
Cancer Genomics ◽  
Low Cost ◽  
Probability Model ◽  
Copy Number Variant ◽  
Research Network ◽  
Community Research ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants

AbstractThe 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.

Communication of genetic testing results and cascade testing among Mexican carriers of cancer-associated variants and their families.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13541-e13541
Author(s):  
Yanin Chavarri Guerra ◽  
Andrés Rodríguez-Faure ◽  
Laura Margarita Bolano Guerra ◽  
Jose Luis Rodriguez Olivares ◽  
Jazmin Arteaga ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Latin American ◽  
Family Involvement ◽  
Medical Information ◽  
Cancer Genomics ◽  
Family Members ◽  
Research Network ◽  
Community Research ◽  
Cascade Testing ◽  
Results Disclosure

e13541 Background: Most hereditary cancer syndromes exhibit autosomal dominant inheritance. Therefore, communicating results to family members and performing cascade testing is crucial in order to identify individuals at risk and offer them appropriate risk-reducing strategies. The process of communicating medical information within families is highly variable and might be affected by several factors (including culture, education, understanding of results, and family conflicts) which remain understudied among individuals living in developing countries. We sought to investigate communication of results and cascade testing reach within the families of Mexican individuals carrying cancer-associated pathogenic variants (PVs). Methods: Individuals seen at a single center in Mexico City carrying a cancer-associated PV and enrolled in the Clinical Cancer Genomics Community Research Network (CCGCRN) were included. Carriers received genetic counseling at the time of results disclosure, a family letter was provided to facilitate the communication of results, and cascade testing was offered. After >3 months from results disclosure, participants were surveyed regarding genetic testing results communication patterns, performance of cascade testing, and surveillance behaviors. Data was analyzed using descriptive statistics. Results: Among 354 probands, 53 (15%) were identified as carriers of a cancer-associated PV. Mean age was 48.3 (range 21-82) years. Cascade testing (≥1 family member) was initiated in 74% of families (n = 39), with a median of 3 (range 0-16) family members tested per proband. 53 carriers responded the survey (29 probands and 24 relatives). 98% (n = 43) had shared results with their family, and 53% (24/45) had shared them with their treating physicians. Most respondents were receiving active surveillance (n = 36, 80%); with 43% (n = 15) reporting having at least one barrier for complying with surveillance (financial: n = 8; distance to the hospital: n = 3). Around half of the carriers perceived their cancer risk to be of ≥50%. Conclusions: Our results show that both the communication of genetic testing results and the proportion of cascade testing within Mexican families are high. Family involvement in health care decision-making is common in Mexico, as in other Latin American countries, which might lead to improved family communication. However, strategies to improve communication with providers are needed in order to tackle barriers and improve surveillance of individuals carrying cancer associated PVs.

scholarly journals Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network

2017 ◽  
Vol 216-217 ◽  
pp. 111-119 ◽  
Author(s):  
Thomas Slavin ◽  
Susan L. Neuhausen ◽  
Christina Rybak ◽  
Ilana Solomon ◽  
Bita Nehoray ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Cancer Genomics ◽  
Cancer Susceptibility ◽  
Research Network ◽  
Community Research ◽  
Clinical Cancer

scholarly journals The US–Latin America Cancer Research Network

2020 ◽  
Vol 6 (Supplement_1) ◽  
pp. 56-56
Author(s):  
Vidya Vedham ◽  
Marianne K. Henderson ◽  
Osvaldo Podhajcer ◽  
Andrea Llera ◽  
Marisa Dreyer Breitenbach ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Research ◽  
Latin America ◽  
Clinical Research ◽  
Latin American ◽  
Molecular Profiling ◽  
Research Network ◽  
Research Institutions ◽  
Cancer Research Network ◽  
The Us

PURPOSE The National Cancer Institute (NCI) Center for Global Health promotes global oncology research to reduce cancer burden worldwide. In 2009, NCI launched the Latin American Cancer Research Network (LACRN) to support a clinical cancer research network in Latin America. LACRN was started by a coalition of research institutions through bilateral collaborative agreements between the US Department of Health and Human Services and the governments of Argentina, Brazil, Chile, Mexico, and Uruguay. The LACRN is supported through a research contract to a study coordination center and subcontracts to 6 low- and middle-income country sites. The participating countries have a shared goal that meets the specific research needs of the regions. The overarching purpose of this endeavor is to implement high-quality standards for conducting clinical research studies and developing collaborative cancer research projects. METHODS NCI supported a clinical breast cancer project for LACRN, “Molecular profiling of breast cancer (MPBC) in Latin American women with stage II and III breast cancer receiving standard neo-adjuvant chemotherapy.” The molecular profiling of breast cancer study was conducted in 40 hospitals and research institutions across 5 countries with a study population of approximately 1,400 patients. RESULTS AND CONCLUSION Establishing a comprehensive network in Latin America and their research institutions yielded an incredible research resource that can be used in future studies, driven by the network. Throughout the process of developing and implementing studies, LACRN helped identify key elements of the functionality of research networks, such as the pivotal role of institutional and government commitment for sustainability; the importance of building multidisciplinary teams, transparent communications, and training; the ability to combine translational, epidemiology, and clinical research to close research gaps; and the application of new technologies to standard cancer clinical care.

Latin America budget airline competition to intensify

2016 ◽  
Keyword(s):  
Latin America ◽  
Latin American ◽  
Low Cost ◽  
Air Travel ◽  
Airline Competition ◽  
Content Type ◽  
Flight Frequency ◽  
The Caribbean ◽  
Regional Airports ◽  
The Cost

Subject The expansion of low-cost airlines in Latin America. Significance In late October, the first tickets for flights with Wingo -- a new no-frills carrier running routes between Colombia, Central America and the Caribbean -- went on sale. The new Colombia-based company is competing directly against several traditional and budget airlines for a share of the growing market for domestic and international air travel within the region. Wingo's creation, together with that of Viva Air Peru in November, highlights the continued disruption to a sector long dominated by a small number of high-cost carriers. Impacts Greater availability of reasonably priced international flights will boost Latin American tourism to the Caribbean. Cheap air travel may also help expand and consolidate regional trade ties, reducing the cost of business trips. Increased flight frequency and passenger numbers will help regional airports which have often operated below capacity.

scholarly journals Validation of a NGS panel, with automated analysis, designed for detection of medically actionable tumor biomarkers for Latin America.

2021 ◽  
Author(s):  
Mauricio Salvo ◽  
Evelin Feliu ◽  
Jessica Toro ◽  
Ivan Gallegos ◽  
Ignacio Maureira ◽  
...  
Keyword(s):  
Latin America ◽  
Cancer Treatment ◽  
Latin American ◽  
Target Therapy ◽  
Predictive Biomarkers ◽  
Automated Analysis ◽  
Clinical Samples ◽  
Dna Integrity ◽  
Precision Oncology ◽  
Brca1 And Brca2

The genomic characterization of solid tumors and a rapidly growing repertoire of target drugs are revolutionizing cancer treatment. Next-generation sequencing (NGS) panels are progressively used in clinical practice for target therapy in high-income countries. In contrast, limited access to tumor sequencing, among other barriers, precludes precision cancer treatment in low- and middle-income countries. To build towards the implementation of precision oncology in Chile and Latin America, we designed a 25-gene panel that contains predictive biomarkers for currently or near-future available therapies in Latin America. Library preparation was optimized to account for DNA integrity variability in Formalin-Fixed Paraffin-Embedded (FFPE) tissue. The bioinformatic pipeline removes FFPE-induced artifacts and known germline variants; while identifying possible discrepancies in somatic mutations due to Latin Americans' underrepresentation in the reference genome databases. Analytic sensitivity and accuracy were assessed using commercial standard controls for FFPE DNA and for germline BRCA1 and BRCA2 mutations, which are biomarkers for PARP inhibitors. Our panel detects small insertions and deletions and single nucleotide variants (SNVs) with 100% sensitivity and specificity down to allelic frequencies of 0.05, and with 100% between-run and within-run reproducibility for non-synonymous variants. The workflow was validated in 265 clinical samples, including breast, colorectal, gastric, ovarian, and gallbladder tumors and blood, leading to identifying 131 actionable variants. Therefore, this NGS panel constitutes an accurate and sensitive method for routine tumor biopsies that could replace multiple non-NGS assays and costly large NGS panels in the Latin American clinical context. The proposed streamlined assay and automated analysis are expected to facilitate the implementation of precision medicine in Latin America.

Germline mutation profile among Hispanic women with epithelial ovarian cancer (EOC).

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1584-1584
Author(s):  
Yanin Chavarri Guerra ◽  
Jeffrey N. Weitzel ◽  
Kathleen Reilly Blazer ◽  
Thomas Paul Slavin ◽  
Rosa Mejia ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Cancer Genomics ◽  
Research Network ◽  
Cancer Risk Assessment ◽  
Community Research ◽  
Underrepresented Populations ◽  
Similar Frequency ◽  
Mutation Profile ◽  
Brca1 Brca2 ◽  
The U.S

1584 Background: Hospital-based studies have reported a 15% prevalence of BRCA1/ BRCA2( BRCA) mutations, with a slightly higher yield of other predisposition genes on multigene panel testing (MGPT) among women with EOC, and National Comprehensive Cancer Network guidelines recommend genetic cancer risk assessment for women with EOC. However, there is limited data about the genetic epidemiology of EOC among underrepresented populations, such as Hispanics. Consequently, we determined the germline mutation profile of Hispanics with EOC, and compared them with non-Hispanics. Methods: We included all women with a personal history of EOC from the U.S. and Latin America (LatAm; Mexico, Colombia, and Peru), enrolled in the Clinical Cancer Genomics Community Research Network registry. We assessed the prevalence of pathogenic variants (PV) in BRCA1/ BRCA2( BRCA) and other genes, contrasting the germline mutation profile between Hispanics living in LatAm, U.S. Hispanics, women of Ashkenazi Jewish (AJ) ancestry in the US, and other U.S. non-Hispanics. Results: Among 1186 women with EOC (209 from LatAm, 254 U.S. Hispanics l, 78 AJ, and 645 other non-Hispanic), 262 (22%) had a PV in BRCAgenes. Hispanics from LatAm and the U.S. had a similar frequency of BRCAmutations to AJ (30.6%, 29.9%, and 38.4%, respectively; p = 0.14); while non-Hispanics showed a significantly lower frequency of BRCAmutations (14.2%, p = 0.03). The most frequently mutated gene was BRCA1(n = 197, 74.6%), followed by BRCA2(n = 67, 25.3%). Among BRCA-negative cases (n = 924), 59% (n = 545) were evaluated by MGPT and PVs were identified in 2.9% [6 Hispanics (1.2%), 3 AJ (3.8%) and 26 Non-Hispanics (4%)]), of which 66% (n = 23) were in mismatch repair genes ( MSH2, MLH1, MSH6, PMS2), and 34% (n = 12) in other EOC-associated genes ( BRIP1, NBN, PALB2, RAD51C, and RAD51D). Clinically actionable PVs in ATM (n = 4; 0.3% ) and CHEK2 (n = 6; 0.5% ) were also observed. Conclusions: Hispanics with EOC have an elevated frequency of PV, similar to that of classic founder populations such as AJ, and significantly higher than other non-Hispanics. This is partially explained by a high prevalence of recurrent LatAm-specific PV, highlighting the importance of conducting genetic studies in underrepresented populations. There was modest incremental benefit of MGPT.

scholarly journals China’s Influence in Latin America in the Brazilian Case (2002-2018)

2020 ◽  
Vol 20 (2) ◽  
pp. 395-407
Author(s):  
Charles Pennaforte ◽  
Nairana Karkow Bones
Keyword(s):  
Latin America ◽  
Latin American ◽  
Low Cost ◽  
High Technology ◽  
Asian Country ◽  
Short Term ◽  
Economic Relations ◽  
Structural Integration ◽  
Economic Improvement

In this paper the authors aim to establish the reasons that led the Chinese state to view Latin America as an important partner between 2002 and 2018 and try to analyse the development of Chinese presence in Latin America and its possible impacts and perspectives in the 21st century in Brazil. For that, both political and economic relations between China and Latin America’s countries, especially the relations between China and Brazil, and their development are examined by using a comparative and historical approach. This paper is divided in three sections. The first part characterizes the emergence of Asia as a prominent actor within the current world system and China’s participation as a major economic competitor from the 1980s. In the second section, the Chinese interest in Latin America and its importance is analysed. Finally, the influence of China in Brazil is exposed in the last section. In the conclusion, undoubtedly, the Asian country has a huge influence in areas where it conquers, especially in Latin America and Brazil, leading mainly investments and its products of both high technology and low cost. In the short term, countries that receive this type of investment see an increase in production and, consequently, an economic improvement due to the increase in the market and the consumption process. On the other hand, Latin American companies and industries do not have the technological capacity or, to a certain extent, a competitive advantage to compete with Chinese products in the long term, due to the stricter labour laws in American countries, compared to the Asian country. Hence, one of Brazil’s possible strategies for meeting the challenges of expanding relations with China is to invest in greater complementarity and structural integration of the region through MERCOSUR.

Genetic, clinical and pathological characteristics of BRCA-associated breast cancer (BC) in Hispanic patients in the United States (US) and Latin America (LatAm).

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1539-1539
Author(s):  
Yanin Chavarri Guerra ◽  
Sharon Sand ◽  
Marcia Cruz Correa ◽  
Pamela Ganschow ◽  
Nancy Cohen ◽  
...  
Keyword(s):  
Cancer Genomics ◽  
Hispanic Women ◽  
The United States ◽  
Research Network ◽  
Community Research ◽  
Brca Mutations ◽  
Younger Age ◽  
The Us ◽  
Hispanic Patients ◽  
History Of

1539 Background: Hispanic women with BC present at a younger age, have a higher frequency of BRCA mutations and show a worse incidence-to-mortality ratio than non-Hispanic women. Information regarding the characteristics of BRCA-associated BC in Hispanics is limited. Here, we assess differences in BRCA-associated BC between Hispanic patients in the US and in LatAm. Methods: Hispanic patients from the US and LatAm (Mexico, Colombia, Peru, and Puerto Rico) with a history of BRCA-associated BC enrolled in the Clinical Cancer Genomics Community Research Network registry were included. We compared the genetic, demographic, clinical and pathologic characteristics between Hispanics from the US and LatAm using Fisher’s exact test and x2statistics. Results: Between 1997 and 2016, 3670 Hispanic patients with a history of BC from LatAm (n = 1341) and the US (n = 2329) were identified, of which 490 (13.3%) had a deleterious BRCA mutation. The frequency of BRCA mutations was similar in Hispanics from LatAm (13.8%, n = 185) and the US (13.1%, n = 305). No significant differences were found in the frequency of BRCA1 vs BRCA2 mutations between patients from LatAm (BRCA1 68%, BRCA2 31.8%) and the US (BRCA1 61.3%, BRCA2 39%) (p = .12). The most frequent mutations found in BRCA1 were: ex 9-12del (LatAm n = 24, US n = 15), 185delAG (LatAm n = 13, US n = 18) and 943ins10 (LatAm n = 3, US n = 8), and in BRCA2 3492insT (LatAm n = 3, US n = 28). Mean age at BC diagnosis was 39.1 (SD 9.5) in LatAm and 41.7 (SD 10.6) in the US (p = 0.01). US patients were significantly more likely to present with Stage 0-II BC than those from LatAm (77.1% vs. 47.6%, p < .001). We found no differences in the proportion of hormone receptor positive tumors between patients from LatAm (45%) and the US (47%) (p = .78). Conclusions: The frequency of BRCA-associated BC was similar between Hispanics in LatAm and the US. Women from LatAm with BRCA mutations present at a younger age, as seen for sporadic BC; the causes for this finding warrant further research. Women with BRCA-associated BC in LatAm are more likely to have advanced BC at presentation, which may be a reflection of disparities and barriers in access to care.

Enhancing access to genetic cancer risk assessment (GCRA) in Monterrey, Mexico: The beginning of a prevention program.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13150-e13150
Author(s):  
Dione Aguilar y Méndez ◽  
Jeffrey N. Weitzel ◽  
Kathleen Reilly Blazer ◽  
Danielle Castillo ◽  
Josef Herzog ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Reduction ◽  
Prevention Program ◽  
Cancer Genomics ◽  
Limited Resource ◽  
Research Network ◽  
Cancer Risk Assessment ◽  
Community Research ◽  
Cancer Center ◽  
Cascade Testing

e13150 Background: In limited-resource countries like Mexico, GCRA is not routinely provided due to elevated costs, lack of public coverage for testing and prophylactic surgeries, and limited GCRA expertise or awareness among providers and patients. Thus, GCRA services in Mexico are 20 years behind higher income countries, resulting in suboptimal care and limited opportunity for prevention. The Breast Cancer Center TecSalud established formal GCRA services for underserved patients by recruiting a cancer geneticist who provides care at no added expense to patients, building academic collaborations for training and research with City of Hope, and enabling free genetic testing through the Clinical Cancer Genomics Community Research Network, supported in part by the Breast Cancer Research Foundation. Aim: To report the uptake of the GCRA program by patients and relatives at TecSalud from January 2016 - December 2018. Methods: Eligibility includes Mexican women who meet hereditary breast cancer testing criteria and family members of mutation carriers. Risk reduction procedures are covered by Seguro Popular and/or the NGO Fundación Santos y de la Garza Evia. Results: GCRA was offered to 255 patients and 74 at risk relatives, with an increasing reach (proportion of those eligible who access the program). A significant growth of cascade testing and access to risk reduction surgery over time are noted. Conclusions: A growing number of referrals and GCRA visits shows improving reach, possibly due to engagement of the multidisciplinary team and increased patient awareness. The expansion of cascade testing and performance of risk-appropriate surgeries reflects a maturing prevention program. Key determinants of our progress are collaborations that provided us with crucial mentorship, access to genetic assays, as well as the increasing involvement of local leaders, administrators and benefactors for the establishment of vital clinical and research capacity. Multilevel efforts should continue to enhance the delivery of standard of medical care for the most vulnerable and underserved high-risk patients and families. [Table: see text]

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