Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 May 24;39(2):210-22.
doi: 10.1590/1678-4685-GMB-2014-0363.

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

Edenir Inêz Palmero  1   2   3   4   5 , Bárbara Alemar  1   2 , Lavínia Schüler-Faccini  1   6   7 , Pierre Hainaut  3 , Carlos Alberto Moreira-Filho  8   9 , Ingrid Petroni Ewald  2 , Patricia Koehler Dos Santos  1   2 , Patricia Lisbôa Izetti Ribeiro  2 , Cristina Brinkmann de Netto Oliveira  6 , Florence Le Calvez-Kelm  3 , Sean Tavtigian  3 , Silvia Liliana Cossio  2   10 , Roberto Giugliani  1   6   7 , Maira Caleffi  11 , Patricia Ashton-Prolla  1   2   6   7
Affiliations

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

Edenir Inêz Palmero et al. Genet Mol Biol. .

Erratum in

  • Erratum.
    [No authors listed] [No authors listed] Genet Mol Biol. 2017 Apr-Jun;40(2):552. doi: 10.1590/1678-4685-GMB-2014-0363er. Epub 2017 May 29. Genet Mol Biol. 2017. PMID: 28304071 Free PMC article.

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1. Pedigree of a family with p.E3002K mutation in BRCA2 gene.
Figure 2
Figure 2. CHEK2 1100delC mutation family. Pedigree (A), forward (B) and reverse (C) sequencing of germline DNA. WT=wild type; dx=age at diagnosis; d=age of death; red arrows indicate the last readable base.
See this image and copyright information in PMC

References

    1. Antoniou AC, Pharoah PD, Easton DF, Evans DG. BRCA1 and BRCA2 cancer risks. J Clin Oncol. 2006;24:3312–3313. author reply 3313-3314. - PubMed
    1. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A, Crowther D. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 1994;54:1298–1304. - PubMed
    1. Biswas K, Das R, Eggington JM, Qiao H, North SL, Stauffer S, Burkett SS, Martin BK, Southon E, Sizemore SC, et al. Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. Hum Mol Genet. 2012;21:3993–4006. - PMC - PubMed
    1. Caleffi M, Ribeiro RA, Bedin AJ, Jr., Viegas-Butzke JM, Baldisserotto FD, Skonieski GP, Giacomazzi J, Camey SA, Ashton-Prolla P. Adherence to a breast cancer screening program and its predictors in underserved women in southern Brazil. Cancer Epidemiol Biomarkers perv. 2010;19:2673–2679. - PubMed
    1. Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R, French BRCA GGC Consortium Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res. 2012;40:D992–D1002. - PMC - PubMed

Internet Resources

    1. BCI Breast Cancer International Core database, BIC. 2014. [(accessed July10 14)]. http://research.nhgri.nih.gov/bic.
    1. DataSUS 2014. [(accessed June 18, 2014)]. http://www.datasus.gov.br.
    1. Globocan 2014. [(accessed November 2, 2014)]. http://globocan.iarc.fr/Default.aspx.
    1. Government of Rio Grande do Sul [(accessed November 2, 2014)]. http://www.rs.gov.br.
    1. NCCN National Comprehensive Cancer Network - NCCN. 2014. [(accessed September 15, 2014)]. http://www.nccn.org.