Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer

Antonino Giambona, Pina Lo Gioco, Marisa Marino, Ida Abate, Rosalba Di Marzo, Mariella Renda, Francesca Di Trapani, Francesca Messana, Salvo Siciliano, Paolo Rigano, Farid F. Chehab, Haig H. Kazazian, Aurelio Maggio

Research output: Contribution to journalArticlepeer-review

Abstract

This paper reports the results of 1428 β-thalassemia chromosomes studied in Sicily during a hemoglobinopathy control program starting in 1983. Molecular screening was performed by direct restriction enzyme analysis, allele specific oligonucleotide (ASO) hybridization, reverse dot blot analysis (RDB) and, for the rare or new mutations, by direct sequencing of polymerase chain reaction (PCR) products. Using these approaches 1410 (98.7%) out of 1428 β-globin gene defects were characterized, involving 22 different β-thalassemia mutations. Three of these were present at high frequency (β{ring operator}39, IVS1, 110 and IVS1,6); the other β-globin gene defects were found at low frequency. In the latter, we found a smaller group of mutations at a frequency lower than 10% (IVS1, 1, IVS2, 745, β S) and a larger one at a frequency lower than 2% [-87, IVS1,2, IVS2,1, fr 6, fr 8 (-AA), fr 44, fr 76, -101, IVS1, 116, IVS1, 3′end G-C, IVS1,5 G-A, IVS1,5 G-C, cod 30, Lepore, deltaβ, β C]. The possible origin of this very large number of mutations is discussed, taking into account the historical point of view. Moreover, this approach has made a first trimester prenatal diagnosis program possible in our region in practically all cases, with a great improvement in general thalassemia management.

Original languageEnglish (US)
Pages (from-to)526-530
Number of pages5
JournalHuman genetics
Volume95
Issue number5
DOIs
StatePublished - May 1 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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