Mutational analysis of<i>BRCA1</i>and<i>BRCA2</i>genes in Peruvian families with hereditary breast and ovarian cancer

Buleje, Jose; Guevara‐Fujita, Maria Luisa; Acosta, Oscar; Huaman, Francia D.P.; Danos, Pierina; Murillo, Alexis; Pinto, Joseph A.; Araujo, Jhajaira M.; Aguilar, Alfredo; Ponce, Jaime; Vigil, Carlos Enrique; Castañeda, Carlos A.; Calderón, Gabriela; Gómez, Henry; Fujita, Ricardo

doi:10.1002/mgg3.301

Cited by 17 publications

(14 citation statements)

References 54 publications

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“…p.L771L, p.S1436S, p.P871L, p.E1038G and p.K1183R has also been reported for other Indian population and among them, p.P871L, p.E1038G and p.K1183R were listed on top 20 BIC entries. There are reports that absence of BRCA1 p.K1183R increases breast cancer risk suggesting the protective effect of the polymorphism [7,24]. The possible hypothesis behind cancer occurrence despite the presence of p.K1183R polymorphism in our studied cases could be the balance between DNA damage and repair that determines the individual susceptibility to breast cancer.…”

Section: Discussionmentioning

confidence: 60%

“…Except for the novel polymorphism, the remaining polymorphisms have been repeatedly reported to have no clinical significance in BIC BRCA and ClinVar database by several genetics clinics from all over the world and majority of these polymorphisms reported in these repositories are unpublished [7]. p.L771L, p.S694S, p.P871L, p.E1038G, p.K1183R from exon 11 and p.S1436S from exon 13 of BRCA1 gene has been reported by many studies as polymorphisms or variants of uncertain significance with minor allele frequency (MAF) more than 25% [23,24,25]. p.S694S was reported to be associated with age at diagnosis [26].…”

Section: Discussionmentioning

confidence: 99%

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Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

Zodinpuii¹,

Zothankima²,

Pautu³

et al. 2020

Preprint

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Background: Breast cancer is the most prevalent cancer and leading cause of death among women globally. The present study focuses on screening germline mutations of breast cancer susceptibility genes among the unexplored Mizo breast cancers of culturally and historically homogenous population, living a unique life style habits in terms of diet and tobacco usage. Methods Mutation screening was performed using Sanger sequencing in complete coding region of BRCA1 and frequently mutated exons of TP53, PTEN, CDH1, CHEK2 and XRCC2. Several online mutation prediction tools and databases were used to check the pathogenicity of the polymorphisms observed. Results: We observed eight polymorphisms in total, in which, one variants p.P1544P in BRCA1 gene was found to be novel. No variants were found to have a potential impact on protein since all the polymorphisms are of silent substitutions. No genetic alteration was observed in the studied exons of each of TP53, PTEN, CDH1, CHEK2 and XRCC2. Conclusion: To our knowledge, the present study focusing on familial breast cancer is the first time to analyzed the prevalence of breast cancer susceptibility gene mutations using direct sequencing in Mizo population. Even though, we do not find significant amino acid change, our results suggest the need for further evaluation of broader panel genes and a challenge to screen larger sample size to establish the contribution of these gene mutations in this population.

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Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 99%

Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

Zodinpuii¹,

Zothankima²,

Pautu³

et al. 2020

Preprint

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“…The alterations found in the sampled population are shared with Spain (c.4308 T > C y c.4837A > G) [37] and some Latin American populations, such as those from Peru (c.2082C > T, c.2311 T > C, c.2612C > T, c.3113A > G, c.3548A > G, c.4308 T > C, c.2229 T > C, c.2971A > G, c.3396 T > G, c.3807 T > C, c.4563A > G) [38], Venezuela (c.4308 T > C, c.4837A > G, c.2229 T > C, c.2971A > G, c.4563A > G, c.6513C > G) [39], Argentina (c.2077 G > A, c.2612 C > T, c.3113A > G c.3548A > G, c.2971A > G) [40, 41], Brazil (c.2082 C > T, c.2368A > G, c.2612 C > T, c.2229 T > C, c.3396 T > G, c.3807 T > C, c.4563A > G, c.6513C > G) [42, 43], Mexico (c.6841 + 80_6841 + 8 3delTTAA) [44] and Chile (c.2311 T > C, c.3113A > G, c.3548A > G, c.2971A > G, c.3396 T > G) [45, 46]; it is important to note, however, that not all studies sequenced the BRCA1 and BRCA2 genes. In addition, most of them used PTT; with this, it is not possible to obtain information about the presence of these polymorphisms in all Latin American populations that have been reported in genetic studies including these two genes.…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia

Cortés

Rivera

Tróchez

et al. 2019

Hered Cancer Clin Pract

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Purpose The main risk factor for familial breast cancer is the presence of mutations in BRCA1 and BRCA2 genes. The prevalence of mutations in these genes is heterogeneous and varies according to geographical origin of studied families. In Colombia mutations in these genes have been mainly studied on patients from Andean region. Bogotá and Medellin presented its own battery of mutations. This study aims to identify mutations in BRCA1–2 genes in women with familial breast cancer from different regions of Colombia. Methods One hundred four families with a history of breast cancer were sampled in different regions of Colombia, and the BRCA1 gene and exon 11 of the BRCA2 gene were sequenced. To predict the possible effects of sequence alterations found in protein function, different bioinformatics tools were used. Results A total of 33 variants were found; 18 in BRCA1 and 15 in BRCA2, of which 15 are unique variants of Colombia. In silico analysis established that alterations p.Thr790Ala, p.Arg959Lys and p.Glu1345Lys in the BRCA1 gene and variants p.Leu771Phe, p.Asn818Lys, p.Val859Ser*22 and p.Lys1032Ile in the BRCA2 gene are considered likely pathogenic. Both the mutations as the variants of unknown clinical significance, in their great majority, presented a specific region distribution and they were different from those reported in previous studies. Conclusions In this study we report the BRCA1 and BRCA2 spectrum of mutations and their distribution by regions in Colombia. Our results may help to design a diagnostic test including recurrent mutations for screening high risk to breast cancer families in Colombia.

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“…The work of Vaca-Paniagua et al [81] using pyrosequencing determined a frequency of 41% of BRCA genes alterations in Mexican patients, where 10% were known mutations while the rest were novel or variants with unknown clinical significance. On the other hand, Buleje et al [14] in a comprehensive evaluation of BRCA genes, reported a new mutation in the Peruvian population. It indicates the great need for comprehensive profiling of germline mutations in LATAM with the intention to develop more accurate tests, which are customised for this population.…”

Section: Hereditary Breast Cancermentioning

confidence: 99%

Precision medicine for locally advanced breast cancer: frontiers and challenges in Latin America

Pinto¹,

Saravia²,

Flores³

et al. 2019

ecancer

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Advances in high-throughput technologies and their involvement in the ‘omics’ of cancer have made possible the identification of hundreds of biomarkers and the development of predictive and prognostic platforms that model the management of cancer from evidence-based medicine to precision medicine. Latin America (LATAM) is a region characterised by fragmented healthcare, high rates of poverty and disparities to access to a basic standard of care not only for cancer but also for other complex diseases. Patients from the public setting cannot afford targeted therapy, the facilities offering genomic platforms are scarce and the use of high-precision radiotherapy is limited to few facilities. Despite the fact that LATAM oncologists are well-trained in the use of genomic platforms and constantly participate in genomic projects, a medical practice based in precision oncology is a great challenge and frequently limited to private practice. In breast cancer, we are waiting for the results of large basket trials to incorporate the detection of actionable mutations to select targeted treatments, in a similar way to the management of lung cancer. On the other hand and paradoxically, in the ‘one fit is not for all’ era, clinical and genomic studies continue grouping our patients under the single label ‘Latin American’ or ‘Hispanic’ despite the different ancestries and genomic backgrounds seen in the region. More regional cancer genomic initiatives and public availability of this data are needed in order to develop more precise oncology in locally advanced breast cancer.

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Mutational analysis ofBRCA1andBRCA2genes in Peruvian families with hereditary breast and ovarian cancer

Cited by 17 publications

References 54 publications

Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

Absence of High Penetrance Genes Mutations in Familial Breast Cancer in Mizo-Mongloid Population, Northeast India

Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia

Precision medicine for locally advanced breast cancer: frontiers and challenges in Latin America

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