Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations

Alemar, Bárbara; Herzog, Josef; Netto, Cristina Brinckmann Oliveira; Artigalás, Osvaldo Alfonso Pinto; Schwartz, Ida Vanessa Döederlein; Bittar, Camila Matzenbacher; Ashton‐Prolla, Patrícia; Weitzel, Jeffrey N.

doi:10.1016/j.cancergen.2016.06.008

Cited by 35 publications

(30 citation statements)

References 40 publications

(53 reference statements)

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“…In fact, this contributes to the best interpretation of the genetic results as a crucial part of our educational function, always necessary as described and discussed for Argentina (Solano et al, 2017). It echoes similar findings in Brazil (Alemar et al, 2016) and confirmed the lack of usefulness in the recent compilation of publications (Palmero et al, 2018). There are some Amerindian founder variants identified in countries like Brazil, Colombia, Mexico, Peru (Ossa and Torres, 2016) and Chile (Alvarez et al, 2017), reflecting the local contribution to the genetic spectrum from the native populations, a very important population and epidemiological disclosure.…”

Section: S E Q U E N C I N G T E C H N O L O G I E S I N L a T I N A supporting

confidence: 78%

“…In addition, the need for data to support policies for testing in different international regions is a fundamental strength of the present communication. The different publications included reports with a wide spectrum of methodologies (Alemar et al, 2016;Kehdy et al, 2015;Weitzel et al, 2013), reflecting the fast evolution in sequencing technologies and, thus, a cautious interpretation is imperative to avoid the eventual missing of variants due to the limitations of the methods. Overall results showed very few common variants in Latin America, although the substantial differences in the methodologies are a limitation.…”

Section: S E Q U E N C I N G T E C H N O L O G I E S I N L a T I N A mentioning

confidence: 99%

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Tp53 Pathogenic Variants Related to Cancer

Rosero

Mejia

Corredor

2019

BAG

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TP53 or P53 is a tumor suppressor gene known as the “genome guardian”, responsible for inducing cell response to DNA damage, by stopping the cell cycle in case of mutation, activating DNA repair enzymes, initiating senescence and activation of apoptosis. Mutations in the gene sequence can cause non-synonymous mutations or errors in the reading frame by insertion, deletion or displacement of nucleotides: e.g., c.358A>G mutation in exon 4 and variants located in exons 9 and 10 of the TD domain. Therefore, in this review, we will see that changes in the reading frame, including the loss of one or two base pairs could prevent accurate transcription or changes in the structure and function of the protein, and could completely impair reparation function. These changes promote self-sufficiency in growth signaling, insensitivity to anti-growth signals, and evasion of apoptosis, resulting in limitless replication and induction of metastatic angiogenesis, generating as a consequence the proliferation of tumor, neoplastic, and lymphoid cells. Taking into account the importance of TP53 in the regulation of the cell cycle, the objective of this review is to update information related to the role of this gene in the development of cancer and the description of genetic variations. Key words: Neoplasms, nuclear phosphoprotein p53, Tumor Suppressor, mutation, Clinvar, Uniprot

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Section: S E Q U E N C I N G T E C H N O L O G I E S I N L a T I N A supporting

confidence: 78%

Section: S E Q U E N C I N G T E C H N O L O G I E S I N L a T I N A mentioning

confidence: 99%

Tp53 Pathogenic Variants Related to Cancer

Rosero

Mejia

Corredor

2019

BAG

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“…Current guidelines on which individuals would be most appropriate for gastric genetic cancer risk assessment are lacking, therefore, clinical referrals and subsequent opportunities for CCGCRN recruitment were limited. Enrollment was particularly low outside of the United States (1 each from Peru and Puerto Rico), as resources are lacking even for hereditary breast and ovarian cancer syndrome evaluations (i.e., BRCA1 and BRCA2 [33]). The limited referrals also led to a diagnosis age and cancer family history bias.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2017

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Few susceptibility genes for gastric cancer have been identified. We sought to identify germline susceptibility genes from participants with gastric cancer from an international hereditary cancer research network. Adults with gastric cancer of any histology, and with a germline DNA sample (n= 51), were retrospectively selected. For those without previously identified germline mutations (n= 43), sequencing was performed for 706 candidate genes. Twenty pathogenic or likely pathogenic variants were identified among 18 participants. Eight of the 18 participants had previous positive clinical testing, including six with CDH1 pathogenic or likely pathogenic variants, and two with pathogenic MSH2 and TP53 variants. Of the remaining 10, six were in BRCA1 DNA damage response pathway genes (ATM, ATR, BRCA2, BRIP1, FANCC, TP53), other variants were identified in CTNNA1, FLCN, SBDS, and GNAS. Participants identified with pathogenic or likely pathogenic variants were younger at gastric cancer diagnosis than those without, 39.1 versus 48.0 years, and over 50% had a close family member with gastric cancer (p-values <0.0001). In conclusion, many participants were identified with mutations in clinically-actionable genes. Age of onset and family history of gastric cancer were mutation status predictors. Our findings support multigene panels in identifying gastric cancer predisposition.

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“…Most ancestry proportion was European (70.6%), African (14.5%), NA (8.0%) and east Asian (6.8%), but no association was found between genetic ancestry and mutational status [37]. Finally, results of Alemar et al suggest that the hypothesis of evaluating only recurrent BRCA mutations is not acceptable for some Latin American countries [58]. They screened BRCA mutations through HISPANEL panel (including 15 recurrent mutations previously described in Brazilian patients) in 232 Brazilian patients (southern) at risk for hereditary breast and ovarian cancer, and found a low BRCA mutation rate (eight cases; 3.5%) and the presence of the recurrent mutation c.5266dupC in BRCA1 (five cases).…”

Section: Clinicomolecular Features Of Hostmentioning

confidence: 96%

“…They screened BRCA mutations through HISPANEL panel (including 15 recurrent mutations previously described in Brazilian patients) in 232 Brazilian patients (southern) at risk for hereditary breast and ovarian cancer, and found a low BRCA mutation rate (eight cases; 3.5%) and the presence of the recurrent mutation c.5266dupC in BRCA1 (five cases). They screened BRCA mutations in a similar Brazilian population (n = 193), but through gene sequencing, and found higher BRCA mutation rates (44 cases; 22.8%) and higher rate of recurrent mutations: BRCA1 c.5266dupC (four cases), c.5177 5180delGAAA (three cases) and BRCA2 c.2808 2811del (three cases) [58].…”

Section: Clinicomolecular Features Of Hostmentioning

confidence: 99%

Genetics, tumor features and treatment response of breast cancer in Latinas

Castañeda

Castillo

Villarreal‐Garza

et al. 2018

Breast Cancer Management

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Practice pointsr Latinas with breast cancer have been associated with lower prevalence and higher mortality rates. r The access to healthcare system for Latinas has been described as lower than for white women. r Rates of grade III and triple-negative phenotype breast cancer are higher for Latinas than for white women. r BRCA mutation prevalence appears to be higher in Latinas than white women in the American population. r Distribution of BRCA mutation differs by country in Central, Latin America or Caribbean and recurrent mutations have been described in Mexico. r Finally, evaluated information about treatment efficacy and toxicity in Latinas with breast cancer indicate similar effects than in the white race.Breast cancer is a heterogeneous and genetic disease that has variability according to ethnicity and race with respect to incidence, clinical characteristics and prognosis. The incidence of breast cancer is lower but mortality is higher in Latinas than Caucasians in the US series. Risk factors appear to have different prevalence and impact in Latinas. Breast cancer in Latinas has particular clinic-pathological features including younger age, higher rates of triple-negative subtype and advanced stages. Molecular studies find that Latinas from every region have a specific BRCA incidence and a recurrent mutation, as well as differences in activity of molecular pathways. Treatment response rates and toxicity have also been compared, and no difference was found between Latinas and other ethnic groups.

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Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations

Cited by 35 publications

References 40 publications

Tp53 Pathogenic Variants Related to Cancer

Tp53 Pathogenic Variants Related to Cancer

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

Genetics, tumor features and treatment response of breast cancer in Latinas

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