A Novel Mutation-BRCA1 Associated Hereditary Haplotype of Intragenic Markers of BRCA1 Gene in a Family with History of Breast Cancer

Document Type : Research Articles


Department of Biology, Science and Arts University, Yazd, Iran.


Background: Breast cancer is the most common cancer diagnosed among women, Tumor suppressor genes such
as BRCA1 involved in cell cycle control and repairing of DNA damage. BRCA1 is a risk factor gene that alteration
in its protein cause in susceptibility to breast or ovarian cancer. Short tandem repeat (STR) polymorphism is linked to
some disease. Objective: The aim of this study was screening a new mutation in patients with familial breast cancer.
Materials and Methods: In this study, 200 women with breast cancer were participated. Among the patients, 40 women
suffer from familial breast cancer. After DNA extraction from peripheral blood samples, Exons 16 to 23 of BRCA1 gene
directly analyzed in SSCP gel electrophoresis followed by direct sequencing. Results: After direct sequencing, a new
mutation was detected in intron 17 of BRCA1 gene. Three patients of one family have a germ line intronic mutation in
the BRCA1 gene (IVS17-27delA). Also, this mutation in this family is linked to a haplotype of intragenic short tandem
repeat (STR) in the BRCA1 gene. Conclusion: By Screening of gene mutations can be found association of mutation
and incidence of disease. Also, studying the mutation in families and finding specific hereditary patterns in that family
can be effective in prognosis of disease in other family members.


Main Subjects