Identification of Germline BRCA1 Mutations among Breast Cancer Families in Northeastern Iran

Kooshyar, Mohammad Mahdi; Nassiri, Mohammadreza; Mahdavi, Morteza; Doosti, Mohammad; Parizadeh, Amirreza

추천

검색

자료유형: 학술저널

저자정보: Kooshyar, Mohammad Mahdi (Department of Hematology-Oncology, Mashhad University of Medical Sciences) Nassiri, Mohammadreza (Department of Agricultural and Animal Biotechnology, Institute of Biotechnology, Ferdowsi University of Mashhad) Mahdavi, Morteza (Animal Science Department, Ferdowsi University of Mashhad) Doosti, Mohammad (Animal Science Department, Ferdowsi University of Mashhad) Parizadeh, Amirreza (Animal Science Department, Ferdowsi University of Mashhad)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제14권 제7호

발행연도: 2013.1

수록면: 4,339 - 4,345 (7page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

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.

#BRCA1 #hereditary breast cancer #185delAG #5382insC

참고문헌 (0)

참고문헌 신청

참고문헌이 DBpia에서 서비스 중이라면, [참고문헌 신청]을 통해 등록해보세요