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Screening for germline BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil

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Screening for germline BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil

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Título Screening for germline BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil
Autor Palmero, Edenir Inêz
Temes, Bárbara Alemar Beserra
Faccini, Lavinia Schuler
Hainaut, Pierre
Moreira Filho, Carlos Alberto
Ewald, Ingrid Petroni
Santos, Patricia Koehler dos
Ribeiro, Patrícia Lisbôa Izetti
Netto, Cristina Brinckmann Oliveira
Kelm, Florence Le Calvez
Tavtigian, Sean V.
Cossio, Silvia Liliana
Giugliani, Roberto
Caleffi, Maira
Prolla, Patrícia Ashton
Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA). If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening, respectively, and 7 for CHEK2 1100delC testing. A deleterious BRCA2 mutation was identified in one of the HBOC probands and the CHEK2 1100delC mutation occurred in one of the HBCC families. No deleterious germline alterations were identified in BRCA1 or TP53. Although strict inclusion criteria and a comprehensive testing approach were used, the suspected genetic risk in these families remains unexplained. Further studies in a larger cohort are necessary to better understand the genetic component of hereditary breast cancer in Southern Brazil.
Contido em Genetics and molecular biology. Ribeirão Preto, SP. Vol. 39, no. 2 (Jun. 2016), p. 210-222
Assunto Neoplasias da mama
Predisposição genética para doença
[en] Breast cancer predisposition syndrome
[en] Genetic cancer risk assessment
[en] Hereditary breast cancer
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/147471
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