The Brazilian Hereditary Cancer Network: historical aspects and challenges for clinical cancer genetics in the public health care system in Brazil

Ashton‐Prolla, Patrícia; Seuánez, Héctor N.

doi:10.1590/1678-4685-gmb-2014-0373

Cited by 13 publications

(11 citation statements)

References 14 publications

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“…For instance, until recently the coverage of oncogenetic services in Brazil, was restricted to less than 5% of the population. However, a significant advance took place in 2012, when the coverage of genetic testing by private health care plans became mandatory in Brazil, currently covering around 20–30% of the population [ 19 , 87 ].…”

Section: Discussionmentioning

confidence: 99%

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

et al. 2017

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BackgroundGenetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America. MethodsEleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome.ResultsWe performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR variants included MLH1 up to 54%, MSH2 up to 43%, MSH6 up to 10%, PMS2 up to 3% and EPCAM up to 0.8%. The Latin America MMR spectrum is broad with a total of 220 different variants which 80% were private and 20% were recurrent. Frequent regions included exons 11 of MLH1 (15%), exon 3 and 7 of MSH2 (17 and 15%, respectively), exon 4 of MSH6 (65%), exons 11 and 13 of PMS2 (31% and 23%, respectively). Sixteen international founder variants in MLH1, MSH2 and MSH6 were identified and 41 (19%) variants have not previously been reported, thus representing novel genetic variants in the MMR genes. The AMSII criteria was the most used clinical criteria to identify pathogenic MMR carriers although microsatellite instability, immunohistochemistry and family history are still the primary methods in several countries where no genetic testing for LS is available yet.ConclusionThe Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of Latin America countries.

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Section: Discussionmentioning

confidence: 99%

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

et al. 2017

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“…The genetic testing was performed using distinct methodologies, including full gene analysis by Sanger or next generation sequencing, point mutation analysis by Sanger or genotyping methods (as HISPANEL), and MLPA for analysis of large genomic rearrangements. Most data came from institutions participating in the Brazilian Hereditary Cancer Network (BHCN), convened by the Brazilian National Cancer Institute (INCA, Instituto Nacional de Cancer) and partially supported by public funding from the National Council for Scientific and Technical Development (CNPq) 41 . These centers, mostly public hospitals, are established in the Cities/States of Belém/Pará (in the Northern region, encompassing the Amazon basin), Salvador/Bahia (in the Northeastern region), Vitória/Espírito Santo, Rio de Janeiro/Rio de Janeiro, São Paulo/São Paulo, Ribeirão Preto/São Paulo, Barretos/São Paulo (in the Southeastern region) and Porto Alegre/Rio Grande do Sul (in Southern Brazil).…”

Section: Methodsmentioning

confidence: 99%

The germline mutational landscape of BRCA1 and BRCA2 in Brazil

Palmero

Carraro

Alemar

et al. 2018

Sci Rep

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The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation of clinical management strategies, and in Brazil, there is limited access to these services, mainly due to the costs/availability of genetic testing. Aiming at the identification of recurrent mutations that could be included in a low-cost mutation panel, used as a first screening approach, we compiled the testing reports of 649 probands with pathogenic/likely pathogenic variants referred to 28 public and private health care centers distributed across 11 Brazilian States. Overall, 126 and 103 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-six novel variants were reported from both genes, and BRCA2 showed higher mutational heterogeneity. Some recurrent mutations were reported exclusively in certain geographic regions, suggesting a founder effect. Our findings confirm that there is significant molecular heterogeneity in these genes among Brazilian carriers, while also suggesting that this heterogeneity precludes the use of screening protocols that include recurrent mutation testing only. This is the first study to show that profiles of recurrent mutations may be unique to different Brazilian regions. These data should be explored in larger regional cohorts to determine if screening with a panel of recurrent mutations would be effective.

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“…Recommendations included quality assurance in genetic testing, education of onco logy professionals and access to clinical cancer genetic services 80 . These services are growing worldwide, notably in some HICs and upper middle-income countries in Latin America and Asia 171,[176][177][178] ; however, severe shortages of qualified genetics health care providers, such as genetic counsellors, occur even in HICs. New models of care that take advantage of telemedicine and other semiautomated strategies for (at least) pre-test genetic counselling, as well as extending genetic services into certain clinical settings, such as breast surgery and gynaecological oncology clinics, can help to address human resources shortages 129 , at least in well-resourced settings.…”

Section: Bridging the Evidence-policy Gapmentioning

confidence: 99%