The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil

Hagit Schayek, Luiz De Marco, Sigal Starinsky-Elbaz, Mariana Rossette, Yael Laitman, Luciana Bastos-Rodrigues, Agnaldo Lopes da Silva Filho, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

Abstract

In Brazil, several recurring mutations in BRCA1 and BRCA2 and a TP53 mutation (R337H) have been reported in high risk breast cancer cases. We hypothesized that these recurring mutations may also be detected in the general population and ovarian cancer cases in the state of Minas Gerais. To test this notion, participants were recruited from the outpatient and the Gynecological clinic in the UFMG Medical Center in Belo Horizonte, Minas Gerais, Brazil. BRCA1 (c.68_69delAG, c.5266dupC, c.181T>G, c.4034delA, c.5123C>A), BRCA2 (c.5946delT, c.8537_8538delAG, 4936_4939delGAAA), the c.156_157insAlu* BRCA2 and the c.1010G>A *TP53 mutation were genotyped using validated techniques. Overall, 513 cancer free participants (273 men) (mean age 47.7 ± 15.1 years) and 103 ovarian cancer cases (mean age at diagnosis 58.7 ± 9.6 years) were studied. None of the participants were found to carry any of the genotyped mutations. We conclude that the recurring mutations in BRCA1, BRCA2 and TP53 cannot be detected in the general population or consecutive ovarian cancer cases in this geographical region in Brazil.

Original languageEnglish
Pages (from-to)50-52
Number of pages3
JournalCancer genetics
Volume209
Issue number1-2
DOIs
StatePublished - 1 Jan 2016

Keywords

  • Consecutive ovarian cancer cases
  • High risk families
  • Population screening
  • Recurring BRCA mutations
  • TP53 founder mutation

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