Abstract
The purpose of this study was to evaluate the prevalence of BRCA1 (MIM: 113705) founder mutations in familial breast cancer (BC) patients with high risks in Iran. BRCA1 is among the cancer susceptibility genes best known for high penetrance mutations. BRCA1 genotyping is now used to determine patient counseling, management decisions, and prognosis of this syndrome. Thirty nine patients with clinical BC and 29 high risk healthy women, related to the patients, participated in the study. DNA from blood samples was extracted and analyzed by PCR and SSCP methods in order to find 185delAG and 5382insC founder mutations. In addition, a 251bp fragment of BRCA1's exon 11 was amplified and analyzed for determination of new mutations. The data indicated the presence of 185delAG and 5382insC founder mutations in both groups studied. Two out of 39 BC patients (5.1%) and one out of 29 relatives (3.4%) were suspected to be carriers of 185delAG mutations. However, we found only one patient (2.6%) to be a carrier of a 5382insC mutation. Also, 2 women (5.1%) of the patient group and 3 n (10.3%) of relatives group were identified as carriers of unclarified mutations in the 251bp fragment of the BRCA1 gene. The carriers of BRCA1 founder mutations have a high lifetime risk of breast cancer. Therefore, these data are useful in counseling of individuals with a significant family history of breast cancer.
Highlights
Breast cancer (BC) is the most common malignancy in women and the leading cause of cancer death in females worldwide, accounting for 23% (1.38 million) of total new cancer cases and 14% (458,400) of the total cancer deaths in 2008
Some mutation in other carriers was only found in one individual in the family. This is the first genetic study on BRCA1 gene mutations conducted in breast cancer (BC) patients from northeastern Iran
Very few reports have been published about the spectrum of BRCA1 sequence variants in the Iranian population and several studies have evaluated the frequency and risk associated with BC with the selected mutations in BRCA1 in other geographic regions, except northeastern Iran
Summary
Breast cancer (BC) is the most common malignancy in women and the leading cause of cancer death in females worldwide, accounting for 23% (1.38 million) of total new cancer cases and 14% (458,400) of the total cancer deaths in 2008. In the USA, the estimated number of new cases of BC in 2012 was 226,870, of which 39,510 resulted in death (American Cancer Society, 2012). The purpose of this study was to evaluate the prevalence of BRCA1 (MIM: 113705) founder mutations in familial breast cancer (BC) patients with high risks in Iran. Results: The data indicated the presence of 185delAG and 5382insC founder mutations in both groups studied. 2 women (5.1%) of the patient group and 3 n (10.3%) of relatives group were identified as carriers of unclarified mutations in the 251bp fragment of the BRCA1 gene. The carriers of BRCA1 founder mutations have a high lifetime risk of breast cancer. Conclusions: these data are useful in counseling of individuals with a significant family history of breast cancer
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
