National Cancer Institute José Alencar Gomes da Silva. Breast Cancer Situation in Brazil: Data Synthesis from Information Systems. Retrieved March 11, 2024, from https://www.inca.gov.br/publicacoes/livros/situacao-do-cancer-de-mama-no-brasil-sintese-de-dados-dos-sistemas-de-informacao.

Achatz MI, Caleffi M, Guindalini R, Marques RM, Nogueira-Rodrigues A, Ashton-Prolla P (2020) Recommendations for advancing the diagnosis and management of hereditary breast and ovarian cancer in Brazil. JCO Glob Oncol 6:439–452. https://doi.org/10.1200/JGO.19.00170

Article  PubMed  Google Scholar 

Henkel J, Laner A, Locher M, Wohlfrom T, Neitzel B, Becker K et al (2023) Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients. Eur J Hum Genet 31:925–930. https://doi.org/10.1038/s41431-023-01380-2

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kurian AW, Ward KC, Hamilton AS, Deapen DM, Abrahamse P, Bondarenko I et al (2018) Uptake, results, and outcomes of germline multiple-gene sequencing after diagnosis of breast cancer. JAMA Oncol 4:1066–1072. https://doi.org/10.1001/jamaoncol.2018.0644

Article  PubMed  PubMed Central  Google Scholar 

www.gov.br. (2023, June). Census 2022 indicates Brazil totals 203 million inhabitants. Retrieved from https://www.gov.br/pt-br/noticias/financas-impostos-e-gestao-publica/2023/06/censo-2022-indica-que-o-brasil-totaliza-203-milhoes-de-habitantes#:~:text=%C2%BB%20A%20popula%C3%A7%C3%A3o%20do%20pa%C3%ADs%20chegou,demogr%C3%A1fico%20anterior%2C%20realizado%20em%202010.

Agência Nacional de Saúde Suplementar. (2018). Rol de Procedimentos e Eventos em Saúde: Resolução Normativa - RN nº 428, de 7 de novembro de 2017. Retrieved from https://www.ans.gov.br/images/ANEXO/RN/Anexo_II_DUT_Rol_2018_-_RETIFICADO.pdf.

Carvalho S, Cury NM, Brotto DB, de Araujo LF, Rosa RCA, Teixeira LA et al (2020) 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 13:21. https://doi.org/10.1186/s12920-019-0652-y

Article  CAS  Google Scholar 

Sandoval RL, Leite ACR, Barbalho DM, Assad DX, Barroso R, Polidorio N et al (2021) Germline molecular data in hereditary breast cancer in Brazil: lessons from a large single-center analysis. PLoS ONE 16:e0247363. https://doi.org/10.1371/journal.pone.0247363

Article  PubMed  PubMed Central  CAS  Google Scholar 

Gifoni ACLVC, Gifoni MAC, Wotroba CM, Palmero EI, Costa ELV, Dos Santos W et al (2022) Hereditary breast cancer in the Brazilian state of Ceará (The CHANCE Cohort): higher-than-expected prevalence of recurrent germline pathogenic variants. Front Oncol 12:932957. https://doi.org/10.3389/fonc.2022.932957

Article  PubMed  PubMed Central  CAS  Google Scholar 

Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y et al (2022) Detection of germline variants in Brazilian breast cancer patients using multigene panel testing. Sci Rep 12:4190. https://doi.org/10.1038/s41598-022-07383-1

Article  PubMed  PubMed Central  CAS  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30.424

Article  PubMed  PubMed Central  Google Scholar 

Timoteo AR, Gonçalves AEMM, Sales LAP, Albuquerque BM, de Souza JES, de Moura PCP et al (2018) A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer. Breast Cancer Res Treat 172:637–646. https://doi.org/10.1007/s10549-018-4938-0

Article  CAS  Google Scholar 

Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M et al (2021) Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast Cancer 28:346–354. https://doi.org/10.1007/s12282-020-01165-1

Article  PubMed  Google Scholar 

Paixão D, Torrezan GT, Santiago KM, Formiga MN, Ahuno ST, Dias-Neto E et al (2022) Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients. Front Oncol 12:976959. https://doi.org/10.3389/fonc.2022.976959

Article  PubMed  PubMed Central  CAS  Google Scholar 

Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RS, Santos VC et al (2014) Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian population. Hum Genome Var 1:14012. https://doi.org/10.1038/hgv.2014.12

Article  PubMed  PubMed Central  CAS  Google Scholar 

Ashton-Prolla P, Vargas FR (2014) Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genet Mol Biol 37(1 Suppl):234–240. https://doi.org/10.1590/s1415-47572014000200009

Article  PubMed  CAS  Google Scholar 

Achatz MI, Zambetti GP (2016) The inherited p53 mutation in the Brazilian population. Cold Spring Harb Perspect Med 6:a026195. https://doi.org/10.1101/cshperspect.a026195

Article  PubMed  PubMed Central  CAS  Google Scholar 

Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F et al (2010) Detailed haplotype analysis at the TP53 locus in p. R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat 31:143–150. https://doi.org/10.1002/humu.21151

Article  PubMed  CAS  Google Scholar 

Pinto EM, Billerbeck AE, Villares MC, Domenice S, Mendonça BB, Latronico AC (2004) Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors. Arq Bras Endocrinol Metabol 48:647–650. https://doi.org/10.1590/s0004-27302004000500009

Article  PubMed  Google Scholar 

Paskulin DD, Giacomazzi J, Achatz MI, Costa S, Reis RM, Hainaut P et al (2015) Ancestry of the Brazilian TP53 c1.010G>A (p.Arg337His, R337H) founder mutation: clues from haplotyping of short tandem repeats on chromosome 17p. PLoS One 10:e0143262. https://doi.org/10.1371/journal.pone.0143262

Article  PubMed  PubMed Central  CAS  Google Scholar 

Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF et al (2010) Leiden open variation database of the MUTYH gene. Hum Mutat 31:1205–1215. https://doi.org/10.1002/humu.21343

Article  PubMed  CAS  Google Scholar 

Win AK, Reece JC, Dowty JG, Buchanan DD, Clendenning M, Rosty C et al (2016) Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. Int J Cancer 139:1557–1563. https://doi.org/10.1002/ijc.30197

Article  PubMed  PubMed Central  CAS  Google Scholar 

Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A et al (2019) Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort. Fam Cancer 18:197–201. https://doi.org/10.1007/s10689-018-00114-4

Article  PubMed  CAS  Google Scholar 

Thompson AB, Sutcliffe EG, Arvai K, Roberts ME, Susswein LR, Marshall ML et al (2022) Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer. Fam Cancer 21:415–422. https://doi.org/10.1007/s10689-021-00285-7

Article  PubMed  CAS  Google Scholar 

Win AK, Cleary SP, Dowty JG, Baron JA, Young JP, Buchanan DD et al (2011) Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer 129:2256–2262. https://doi.org/10.1002/ijc.25870

Article  PubMed  PubMed Central  CAS  Google Scholar 

Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC et al (2014) Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med Genet 15:55. https://doi.org/10.1186/1471-2350-15-55

Article  PubMed  PubMed Central  CAS  Google Scholar 

Fernandes GC, Michelli RA, Galvão HC, Paula AE, Pereira R, Andrade CE et al (2016) Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. Oncotarget 7:80465–80481. https://doi.org/10.18632/oncotarget.12610

Article  PubMed  PubMed Central  Google Scholar