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[cited 1 Oct 2016]. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/www.cancer.org\/\" xlink:type=\"simple\">http:\/\/www.cancer.org\/<\/ext-link>"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1007\/s00439-013-1299-y","article-title":"The complex genetic landscape of familial breast cancer","volume":"132","author":"L Melchor","year":"2013","journal-title":"Human Genetics"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/nrc3711","article-title":"Unravelling mechanisms of p53-mediated tumour suppression","volume":"14","author":"KT Bieging","year":"2014","journal-title":"Nature Reviews Cancer"},{"key":"ref6","unstructured":"IARC TP53 [Internet]. [cited 10 Oct 2016]. Available: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/p53.iarc.fr\/\" xlink:type=\"simple\">http:\/\/p53.iarc.fr\/<\/ext-link>"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1177\/1947601911413466","article-title":"Li-Fraumeni Syndrome","volume":"2","author":"D. 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BioMed Central"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1471-2350-15-55","article-title":"Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients","volume":"15","author":"FC Silva","year":"2014","journal-title":"BMC Medical Genetics"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"14012","DOI":"10.1038\/hgv.2014.12","article-title":"Germline mutations in <italic>BRCA1<\/italic>, <italic>BRCA2<\/italic>, CHEK2 and <italic>TP53<\/italic> in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population","volume":"1","author":"GE Felix","year":"2014","journal-title":"Human Genome Variation"},{"key":"ref21","unstructured":"National Comprehensive Cancer Network\u2013NCCN. Genetic\/Familial High-Risk Assessment: Breast and Ovarian (Version 1.2012) [Internet]. [cited accessed 18 Oct 2017]. Availabe: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_screening.pdf\" xlink:type=\"simple\">https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_screening.pdf<\/ext-link> ()."},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"SA Miller","year":"1988","journal-title":"Nucleic acids research"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/humu.21151","article-title":"Detailed haplotype analysis at the <italic>TP53<\/italic> locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect","volume":"31","author":"S Garritano","year":"2010","journal-title":"Human Mutation"},{"key":"ref24","unstructured":"Gislaine Cust\u00f3dio. Rastreamento da Muta\u00e7\u00e3o R337H TP53, Diagn\u00f3stico Precoce do Tumor de C\u00f3rtex Adrenal e Hist\u00f3rico de C\u00e2ncer em Fam\u00edlias do Estado do Paran\u00e1; 2011. [cited 22 Oc 2017]. Database: Acervo Digital UFPR. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/acervodigital.ufpr.br\/handle\/1884\/30438\" xlink:type=\"simple\">http:\/\/acervodigital.ufpr.br\/handle\/1884\/30438<\/ext-link>"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1590\/S0102-311X2007000800005","article-title":"C\u00e2ncer de mama: mortalidade crescente na Regi\u00e3o Sul do Brasil entre 1980 e 2002","volume":"23","author":"ATC Gon\u00e7alves","year":"2007","journal-title":"Cadernos de Sa\u00fade P\u00fablica"},{"key":"ref26","unstructured":"Sehn L. An\u00e1lise da Mortalidade por Doen\u00e7as Cr\u00f4nicas N\u00e3o Transmiss\u00edveis no Rio Grande do Sul [Internet]. [Cited 1 Mar 2018]. Porto Alegre: 2012; page 14. Available from: bvsms.saude.gov.br\/bvs\/publicacoes\/."},{"key":"ref27","unstructured":"Insttituto Nacional do C\u00e2ncer [Internet]. [cited 1 Oct 2016]. Available: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/www.inca.gov.br\/\" xlink:type=\"simple\">http:\/\/www.inca.gov.br\/<\/ext-link>"},{"key":"ref28","unstructured":"Gross LG, Vianna FSL, Nunes LN, Ashton-Prolla P, Camey SA. Avalia\u00e7\u00e3o epidemiol\u00f3gica da incid\u00eancia e mortalidade do c\u00e2ncer de mama precoce no Rio Grande do Sul [Internet]. [Cited 18 Oc 2017]. Porto Alegre: 2014. Available: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.lume.ufrgs.br\/\" xlink:type=\"simple\">https:\/\/www.lume.ufrgs.br\/<\/ext-link>"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1590\/S1415-47572009005000058","article-title":"Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil","volume":"32","author":"EI Palmero","year":"2009","journal-title":"Genetics and Molecular Biology"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1093\/jnci\/dju380","article-title":"Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing","volume":"107","author":"R Manchanda","year":"2015","journal-title":"Journal of the National Cancer Institute"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1038\/gim.2016.29","article-title":"Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations","volume":"18","author":"E D\u2019Andrea","year":"2016","journal-title":"Genetics in medicine: official journal of the American College of Medical Genetics"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"3092","DOI":"10.1200\/JCO.2015.60.8596","article-title":"Population-Wide Screening for Germline <italic>BRCA1<\/italic> and <italic>BRCA2<\/italic> Mutations: Too Much of a Good Thing?","volume":"33","author":"MB Yurgelun","year":"2015","journal-title":"Journal of clinical oncology: official journal of the American Society of Clinical Oncology"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0209934","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T07:24:03Z","timestamp":1589009043000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0209934"}},"subtitle":[],"editor":[{"given":"Alvaro","family":"Galli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2018,12,31]]},"references-count":32,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2018,12,31]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0209934","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,31]]}}}