ORIGINAL ARTICLE

Loss of heterozygosity of the BRCA1 and FHIT genes in patients with sporadic breast cancer from Southern Brazil

S C L Santos¹, L R Cavalli², I J Cavalli¹, R S Lima³, B R Haddad² and E M S F Ribeiro¹

¹ Departamento de Genética, Universidade Federal do Parana, Curitiba, PR, 81531-970 Brazil
² Institute for Molecular and Human Genetics, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington, DC 20007, USA
³ Departamento de Oncologia, Hospital Nossa Senhora das Graças, Curitiba, PR, 80810-120 Brazil

Correspondence to:
Correspondence to:
Dr B R Haddad
Institute for Molecular and Human Genetics, Georgetown University Medical Center, 3800 Reservoir Road NW, Main 4000, Washington DC 20007, USA; haddadb1{at}georgetown.edu

Aim: The evaluation of allelic losses at the FHIT and the BRCA1 genes and at three other loci at the 17q region in a series of 34 sporadic breast cancer cases from Southern Brazil.

Methods: The samples were evaluated for loss of heterozygosity (LOH) at the FHIT and the BRCA1 genes and at three other microsatellite markers at 17q, and the findings were correlated with clinicopathological parameters.

Results: The BRCA1 intragenic marker, D17S855, had the highest frequency of LOH, detected in 10 of 24 informative cases, followed by the D17S579 (six of 23 informative cases), D17S806 (five of 21 informative cases), and D17S785 markers (five of 21 informative cases). LOH at the FHIT intragenic marker, D3S1300, was found in six of 25 informative cases. In four of the six cases with LOH of the FHIT gene, there was concomitant loss of the BRCA1 intragenic marker.

Conclusions: The frequency of allelic losses in the FHIT and BRCA1 loci in the Southern Brazilian population is similar to that described in the general population. No correlations were found when the total LOH frequency was compared with tumour size, grade, or presence of axillary lymph node metastasis. Further studies using larger sporadic breast cancer samples and additional markers would be useful to confirm these findings, in addition to establishing more specific associations with clinicopathological parameters in this specific population.

Keywords: loss of heterozygosity; sporadic breast cancer; BRCA1 gene; FHIT gene

Abbreviations: LOH, loss of heterozygosity; PCR, polymerase chain reaction

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