Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario

Yoshida R. Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer. 2021;28(6):1167–80.

Article  PubMed  Google Scholar 

Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, editors. GeneReviews. Seattle: University of Washington; 1998.

Google Scholar 

Nielsen FC, van Overeem HT, Sørensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer. 2016;16(9):599–612.

Article  CAS  PubMed  Google Scholar 

Instituto Nacional de Câncer José Alencar Gomes da Silva. Estimativa 2023 incidência do Câncer no Brasil. Rio de Janeiro: INCA; 2022. p. 2022.

Google Scholar 

Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the clinical cancer genetics community research network. J Clin Oncol. 2013;31(2):210–6.

Article  CAS  PubMed  Google Scholar 

Palmero EI, Ashton-Prolla P, Rocha JC, Vargas FR, Kalakun L, Blom MB, et al. Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil. J Genet Couns. 2007;16(3):363–71.

Article  PubMed  Google Scholar 

Carvalho SCS, Cury NM, Brotto DB, Araujo LF, Rosa RCA, Texeira LA, et al. Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. BMC Med Genomics. 2020;13:21.

Article  CAS  Google Scholar 

Acosta AX, Abé-Sandes K, Giugliani R, Bittles AH. Delivering genetic education and genetic counseling for rare diseases in rural Brazil. J Genet Couns. 2013;22(6):830–4.

Article  CAS  PubMed  Google Scholar 

Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos Â, Abe-Sandes K, et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci Rep. 2018;8:9188.

Article  PubMed  PubMed Central  Google Scholar 

Santos NP, Ribeiro-Rodrigues EM, Ribeiro-Dos-Santos AK, Pereira R, Gusmão L, Amorim A, et al. Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel. Hum Mutat. 2010;31(2):184–90.

Article  CAS  PubMed  Google Scholar 

Page MJ, Moher D, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. PRISMA 2020 explanation and elaboration: updated guidance and exemplars for reporting systematic reviews. BMJ. 2021;372:n160.

Article  PubMed  PubMed Central  Google Scholar 

Timoteo ARS, Gonçalves AÉMM, Sales LAP, Albuquerque BM, Souza JES, Moura PCP, et al. A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer. Breast Cancer Res Treat. 2018;172(3):637–46.

Article  Google Scholar 

Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RS, Santos VC, et al. Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population. Hum Genome Var. 2014;1:14012.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alemar B, Gregório C, Herzog J, Matzenbacher Bittar C, Brinckmann ONC, Artigalas O, et al. BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: are international testing criteria appropriate for this specific population? PLoS ONE. 2017;12(11): e0187630.

Article  PubMed  PubMed Central  Google Scholar 

Alemar B, Herzog J, Brinckmann ONC, Artigalás O, Schwartz IVD, Matzenbacher Bittar C, et al. Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. Cancer Genet. 2016;209(9):417–22.

Article  CAS  PubMed  Google Scholar 

Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, et al. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genet Mol Biol. 2016;39(2):210–22.

Article  PubMed  PubMed Central  Google Scholar 

Buzolin AL, Moreira CM, Sacramento PR, Oku AY, Fornari ARS, Antonio DSM, et al. Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology. Hum Genomics. 2017;11:14.

Article  PubMed  PubMed Central  Google Scholar 

Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, et al. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med Genet. 2014;15:55.

Article  PubMed  PubMed Central  Google Scholar 

Fernandes GC, Michelli RA, Galvão HC, Paula AE, Pereira R, Andrade CE, et al. Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. Oncotarget. 2016;7(49):80465–81.

Article  PubMed  PubMed Central  Google Scholar 

Brianese RC, Nakamura KDM, Almeida FGDSR, Ramalho RF, Barros BDF, Ferreira ENE, et al. BRCA1 deficiency is a recurrent event in early-onset triple-negative breast cancer: a comprehensive analysis of germline mutations and somatic promoter methylation. Breast Cancer Res Treat. 2018;167(3):803–14.

Article  CAS  PubMed  Google Scholar 

Cury NM, Ferraz VE, Silva WA Jr. TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families. Hered Cancer Clin Pract. 2014;12:8.

Article  PubMed  PubMed Central  Google Scholar 

Felicio PS, Grasel RS, Campacci N, Paula AE, Galvão HCR, Torrezan GT, et al. Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer. Hum Mutat. 2021;42(3):290–9.

Article  CAS  PubMed  Google Scholar 

Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, et al. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast Cancer. 2020;28(2):346–54.

Article  PubMed  Google Scholar 

Grasel RS, Felicio PS, Paula AE, Campacci N, Garcia FAO, Andrade ES, et al. Using co-segregation and loss of heterozygosity analysis to define the pathogenicity of unclassified variants in hereditary breast cancer patients. Front Oncol. 2020;10:571330.

Article  PubMed  PubMed Central  Google Scholar 

Maistro S, Teixeira N, Encinas G, Katayama ML, Niewiadonski VD, Cabral LG, et al. Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC Cancer. 2016;16:934.

Article  PubMed  PubMed Central  Google Scholar 

Dufloth RM, Carvalho S, Heinrich JK, Shinzato JY, Santos CC, Zeferino LC, et al. Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. Sao Paulo Med J. 2005;123(4):192–7.

Article  PubMed  Google Scholar 

Carraro DM, Folgueira MAK, Lisboa BCG, Olivieri EHR, Krepischi ACV, Carvalho AF, et al. Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. PLoS ONE. 2013;8(3): e57581.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nagy TR, Maistro S, Encinas G, Katayama MLH, Pereira GFL, Gaburo-Júnior N, et al. Germline and somatic mutations in postmenopausal breast cancer patients. Clinics. 2021;16(76): e2837.

Article  Google Scholar 

Encinas G, Sabelnykova VY, de Lyra EC, Hirata Katayama ML, Maistro S, de Vasconcellos Valle PWM, et al. Somatic mutations in early onset luminal breast cancer. Oncotarget. 2018;9(32):22460–79.

Article  PubMed  PubMed Central  Google Scholar 

Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, et al. The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte Brazil. Cancer Genet. 2015;209(1–2):50–2.

PubMed  Google Scholar 

Cipriano NM Jr, Brito AM, Oliveira ES, Faria FC, Lemos S, Rodrigues AN, et al. Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil. Breast Cancer. 2018;26(3):397–405.

Article  PubMed  Google Scholar 

Oliveira ES, Soares BL, Lemos S, Rosa RC, Rodrigues AN, Barbosa LA, et al. Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis. Fam Cancer. 2015;15(2):173–81.

Article  Google Scholar 

Moreira MA, Bobrovnitchaia IG, Lima MA, Santos AC, Ramos JP, Souza KR, et al. Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype. Fam Cancer. 2012;11(4):657–60.

Article  CAS  PubMed  Google Scholar 

Lourenço JJ, Vargas FR, Bines J, Santos EM, Lasmar CAP, Costa CH, et al. BRCA1 mutations in Brazilian patients. Genet Mol Biol. 2004;27(4):500–4.

Article  Google Scholar 

Gomes MC, Costa MM, Borojevic R, Monteiro AN, Vieira R, Koifman S, et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat. 2007;103(3):349–53.

Article  CAS  PubMed  Google Scholar 

Gomes R, Soares BL, Felicio PS, Michelli R, Netto CBO, Alemar B, et al. Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer. Genet Mol Biol. 2020;43(2): e20190072.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Matta BP, Gomes R, Mattos D, Olicio R, Nascimento CM, Ferreira GM, et al. Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. Sci Rep. 2022;12:18629.

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