A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population

Abbasi,Sakineh; Rasouli,Mina

doi:10.3892/mmr.2017.6489

A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population

Authors:
- Sakineh Abbasi
- Mina Rasouli
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Affiliations: Department of Laboratory Medicine, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran 14177, Iran, Laboratory of Vaccines and Immunotherapeutics, Institute of Bioscience, University Putra Malaysia, Serdang, Selangor 43400, Malaysia
Published online on: April 20, 2017 https://doi.org/10.3892/mmr.2017.6489
Pages: 3983-3988
Copyright: © Abbasi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls. The duplication allele had a frequency of 35.4 and 21.2% in patients with breast cancer and normal controls, respectively. There was a significant increase in the frequency of the duplication allele in patients with familial breast cancer compared with controls (45.1%, P=0.001). Furthermore, the estimated risk of breast cancer in individuals with a homozygote [odds ratio (OR), 4.093; 95% confidence intervals (CI), 1.957‑8.561] or heterozygote duplicated genotype (OR, 3.315; 95% CI, 1.996‑5.506) was higher compared with the corresponding normal homozygote genotype. In conclusion, the present study indicated that the higher the frequency of the duplicated allele, the higher the risk of breast cancer. To the best of our knowledge, the present study is the first to report FANCA gene duplication in patients with breast cancer.

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