J. Cancer Mol. 2: 123-127,
2006
[Research Paper]
Low Frequency of 185delAG Founder Mutation of
BRCA1
Gene in Iranian Breast Cancer Patients
Parvin Mehdipour, Saied Hosseini-Asl, Arezoo Savabi-E, Laleh Habibi,
Ehsan Alvandi, and Morteza Atri
Department of Medical Genetics, Faculty of Medicine [P. Mehdipour,
S. Hosseini-Asl, A. Savabi-E, L. Habibi, E. Alvandi] and Cancer
Institute, Day Hospital [M. Atri], Tehran University of Medical
Sciences,
Tehran, Iran
Abstract:
AIM:
The mutations in two breast cancer susceptibility genes, BRCA1
and BRCA2, are frequently associated with familial breast
cancer. In this study, we aimed to investigate the probable founder
mutations of BRCA1 and BRCA2 genes in Iranian breast
cancer patients.
METHODS:
The total 400 patients affected with primary breast cancer were
included in this study. Mutation detection was carried out on the
basis of a PCR-based amplification, and two founder mutations for
BRCA1 (185delAG and 5382insC) and one for BRCA2
(6174delT) were screened and considered by pedigree analysis.
RESULTS:
The positive family histories of breast cancer and other
malignancies were recorded in 27.5% and 52% of patient pedigrees,
respectively. The most frequent occurrence of breast cancer across
four generations revealed to be 50% in the 1st degree in the 3rd
generation, 68.8% in the 2nd degree in the 2nd generation, and 59.5%
in the 3rd degree in the 3rd generation. Only 185delAG mutation in
the BRCA1 gene was found in 2/400 (0.5%) of investigated
pedigrees. There were two sisters of the same family. To our
interest both sisters carried 185delAG mutation in the BRCA1
gene, which had a complete penetrance. However, the mutation was
observed with two different organ targeting, at almost an early age
of onset (proband: 45 yr, her sister: 30 yr).
CONCLUSION:
Considering the importance of genetic counseling and recording, the
adequate information for the pedigrees of cancer patients put
forward the principle approaches in cancer clinics to facilitate
early detection for preventing challenges.
(Keywords:
breast cancer; BRCA1; BRCA2; founder mutation;
pedigree)
Received
4/8/06; Revised 5/29/06; Accepted 6/6/06.
1Correspondence:
Prof. Parvin Mehdipour, Department of Medical Genetics, Faculty of
Medicine, Tehran University of Medical Sciences, Tehran 14155-6447,
Iran. E-mail: mehdipor@tums.ac.ir |
