Estrogen Receptor-α A→G Mutation and the Breast Cancer Risk

سال انتشار: 1393
محل انتشار: دهمین کنگره بین المللی سرطان پستان
کد COI اختصاصی: ICBCMED10_079
زبان مقاله: انگلیسی
تعداد مشاهده: 400

نویسندگان

۱Assistant Professor, Department of Laboratory Sciences, School of Allied Medicine, TehranUniversity of Medical Sciences, Tehran, Iran

Mina Rasouli

Faculty of Medicine, The University of New South Wales,UNSW SYDNEY, NSW ۲۰۵۲, Australia

Samira Kalbasi

DVM, Faculty of Veterinary, University of Tehran, Tehran, ۱۴۱۷۹۶۵۴۶۳, Iran

چکیده

Genetic mutations in premalignant breast lesions may have a role in malignancy progression or influence the behavior of subsequent disease. A point mutation in estrogen receptor-α (ER-α) as A908G (Lys303→Arg) was originally involved to hypersensitive to estrogen breast hyperplasia. We detected this mutation among Iranian women with invasive breast cancer. A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing. We detected the 10.7% ER-α A908G mutation in the form of heterozygote genotype only among cancer patients (χ2=22.752, P=0.00). The allelic frequency of mutant allele AGG in codon 303 was significantly (χ2=29.709, P=0.001) higher in patients with the family history of breast cancer (28.9%) than those without the family history of breast cancer (1.9%). Our data suggest that ER-α codon 303 mutation is correlated with various aspects of breast cancer in Iran. ER-α genotype might represent a surrogate marker for predicting breast cancer developing later in life.

کلیدواژه ها

Breast cancer, mutation, estrogen receptor, PCR-SSCP, lymph node metastasis

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