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 Kazazian, Aurelio Maggio

Research output: Contribution to journalArticle

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 1995

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Thalassemia
Mutation
Globins
DNA
Sicily
Gadiformes
Hemoglobinopathies
Restriction Mapping
First Pregnancy Trimester
Prenatal Diagnosis
Oligonucleotides
Genes
Chromosomes
Alleles
Polymerase Chain Reaction
Familial Breast Cancer

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Giambona, A., Gioco, P. L., Marino, M., Abate, I., Di Marzo, R., Renda, M., ... Maggio, A. (1995). Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer. Human Genetics, 95(5), 526-530. https://doi.org/10.1007/BF00223864

Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer. / Giambona, Antonino; Gioco, Pina Lo; Marino, Marisa; Abate, Ida; Di Marzo, Rosalba; Renda, Mariella; Di Trapani, Francesca; Messana, Francesca; Siciliano, Salvo; Rigano, Paolo; Chehab, Farid F.; Kazazian, Haig; Maggio, Aurelio.

In: Human Genetics, Vol. 95, No. 5, 05.1995, p. 526-530.

Research output: Contribution to journalArticle

Giambona, A, Gioco, PL, Marino, M, Abate, I, Di Marzo, R, Renda, M, Di Trapani, F, Messana, F, Siciliano, S, Rigano, P, Chehab, FF, Kazazian, H & Maggio, A 1995, 'Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer', Human Genetics, vol. 95, no. 5, pp. 526-530. https://doi.org/10.1007/BF00223864
Giambona A, Gioco PL, Marino M, Abate I, Di Marzo R, Renda M et al. Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer. Human Genetics. 1995 May;95(5):526-530. https://doi.org/10.1007/BF00223864
Giambona, Antonino ; Gioco, Pina Lo ; Marino, Marisa ; Abate, Ida ; Di Marzo, Rosalba ; Renda, Mariella ; Di Trapani, Francesca ; Messana, Francesca ; Siciliano, Salvo ; Rigano, Paolo ; Chehab, Farid F. ; Kazazian, Haig ; Maggio, Aurelio. / Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer. In: Human Genetics. 1995 ; Vol. 95, No. 5. pp. 526-530.
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AU - Renda, Mariella

AU - Di Trapani, Francesca

AU - Messana, Francesca

AU - Siciliano, Salvo

AU - Rigano, Paolo

AU - Chehab, Farid F.

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