Identification of Germline BRCA1 Mutations among Breast Cancer Families in Northeastern Iran
نویسنده:
, , , , , , , ,سال
: 2013
چکیده: Background: 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. Materials and Method: 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. Results: 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. Conclusions: Therefore, these data are useful in counseling of individuals with a significant family history of breast cancer.
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. Materials and Method: 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. Results: 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. Conclusions: Therefore, these data are useful in counseling of individuals with a significant family history of breast cancer.
کلیدواژه(گان): BRCA1,hereditary breast cancer,185delAG,5382insC
کالکشن
:
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آمار بازدید
Identification of Germline BRCA1 Mutations among Breast Cancer Families in Northeastern Iran
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contributor author | Mohammad Mahdi Kooshyar | en |
contributor author | محمدرضا نصیری | en |
contributor author | مرتضی مهدوی | en |
contributor author | محمد دوستی | en |
contributor author | امیررضا پریزادمشهدی | en |
contributor author | Mohammadreza Nassiri | fa |
contributor author | Morteza Mahdavi | fa |
contributor author | Mohammad Doosti | fa |
contributor author | amirreza parizad mashhadi | fa |
date accessioned | 2020-06-06T13:26:01Z | |
date available | 2020-06-06T13:26:01Z | |
date issued | 2013 | |
identifier uri | http://libsearch.um.ac.ir:80/fum/handle/fum/3354653 | |
description abstract | Background: 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. Materials and Method: 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. Results: 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. Conclusions: Therefore, these data are useful in counseling of individuals with a significant family history of breast cancer. | en |
language | English | |
title | Identification of Germline BRCA1 Mutations among Breast Cancer Families in Northeastern Iran | en |
type | Journal Paper | |
contenttype | External Fulltext | |
subject keywords | BRCA1 | en |
subject keywords | hereditary breast cancer | en |
subject keywords | 185delAG | en |
subject keywords | 5382insC | en |
journal title | Asian Pacific Journal of Cancer Prevention | fa |
pages | 4339-4345 | |
journal volume | 14 | |
journal issue | 7 | |
identifier link | https://profdoc.um.ac.ir/paper-abstract-1050037.html | |
identifier articleid | 1050037 |