Haplotype analysis of BRCA1 intragenic markers in Iranian patients with familial breast and ovarian cancer
Journal Title: International Journal of Reproductive BioMedicine - Year 2016, Vol 14, Issue 4
Abstract
Background: Breast cancer is the most common malignancy in women. Breast Cancer Type 1 Susceptibility gene (BRCA1) is a tumor suppressor gene, involved in DNA damage repair and in 81% of the breast-ovarian cancer families were due to BRCA1. In some clinically investigated genes, the intragenic marker polymorphism is important and the screening of such mutations is faster by using short tandem repeat (STR) polymorphism. Individual polymorphism of STR is a good evidence for following inheritance of repeat polymorphism. Objective: The aim of this study was to evaluate three intragenic BRCA1 marker polymorphisms in families, which have two or more patients with breast/ovarian cancer in comparison to healthy women. Materials and Methods: A total of 107 breast and/or ovarian cancer patients and 93 unrelated healthy women with no clinical phenotype of any malignancy or familial cancer history constitute the study groups. Haplotyping analysis, at 3 intragenic BRCA1 microsatellite markers (D17S855, D17S1322 and D17S1323), were performed for all subject and control groups using labeled primers. Results: After fragment analysis, significance differences were observed as follows: two alleles of D17S855; allele 146 (p=0.02) and 150 (p=0.006), and two alleles of D17S1322, allele 121 (p=0.015) and 142 (p=0.043). These differences were compared with control group. There was significance difference in 8 di/tri allelic haplotypes in present experimental subjects. Some haplotypes were observed to have approximately twice the relation risk for breast cancer. Conclusion: According to recent results, assessment of presence or absence of mentioned alleles in BRCA1 microsatellite can be used for prognosis in individuals, suspected of having or not having the breast cancer.
Authors and Affiliations
Seyed Mohsen Miresmaeili, Dor Mohammad Kordi Tamandani, Seyed Mehdi Kalantar, Seyed Mohammad Moshtaghioun
Association of kinase insert domain-containing receptor (KDR) gene polymorphism/ haplotypes with recurrent spontaneous abortion and genetic structure
Background: Recurrent spontaneous abortion is one of the diseases that can lead to physical, psychological, and, economical problems for both individuals and society. Recently a few numbers of genetic polymorphisms in ki...
GnRH agonist trigger versus hCG trigger in GnRH antagonist in IVF/ICSI cycles: A review article
Routinely, a bolus of 5.000-10.000 IU human chorionic gonadotropin (hCG) is used for the final follicular maturation and ovulation as a standard method. HCG has the same effect of luteinizing hormone (LH) with long half-...
Impact of age on semen parameters in male partners of infertile couples in a rural tertiary care center of central India: A cross-sectional study
Background: High rates of sub-fertility and adverse pregnancy outcomes were seen after age 40. In contrast to oogenesis, spermatogenesis continues in elderly men. Objective: To retrospectively study the impact of aging o...
Comparison of pregnancy rate between fresh embryo transfers and frozen-thawed embryo transfers following ICSI treatment
Background: The use of assisted reproductive technology (ART) is increasing in the world. The rate, efficacy and safety of ART are very different among countries. There is an increase in the use of intra cytoplasmic sper...
Determination of the most important risk factors of gestational diabetes in Iran by group analytical hierarchy process
Background: The outbreak of gestational diabetes has a significant increase during recent years. This disease has complications for mother and her baby. Screening is an opportunity for preventing of gestational diabetes...