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BRCA1 Gene Mutations in Breast Cancer Patients from Kerman Province, Iran.

Saleh-Gohari N, Mohammadi-Anaie M, Kalantari-Khandani B - Iran J Cancer Prev (2012)

Bottom Line: A deletion of one adenine (c.1017delA) and insertion of one cytosine (c.969InsC) have found as the most frequent (20%) mutation in this survey.To our knowledge, four mutations: (c.969InsC, c.792A>C, c.825G>C, c.822T>A) which have identified in this study, have not been previously reported in the literature.A larger cohort study would help identifying all relevant BRCA1 mutations in this population.

View Article: PubMed Central - PubMed

Affiliation: Dept. of Genetics, Kerman University of Medical Sciences, Kerman, Iran.

ABSTRACT

Background: Breast cancer is the most common malignancy in Iranian women. Mutations in BRCA1 gene is one of the important genetic predisposing factors in breast cancer. This gene is a tumor suppressor that plays an important role in regulating the functions of RAD51 protein for strand invasion in homologous recombination repair.

Methods: The BRCA1 gene has amplified in the DNA isolated from breast cancer patients' leukocytes, using Polymerase Chain Reaction technique. The PCR products have sequenced using an automated DNA sequencer and subsequently obtained data have aligned with the human BRCA1 DNA sequences available online.

Results: In this study, we have considered nine different mutations on 60 examined chromosomes from 30 patients, living in Kerman province. A deletion of one adenine (c.1017delA) and insertion of one cytosine (c.969InsC) have found as the most frequent (20%) mutation in this survey. A substitution of thymine for adenine (c.999T>A) has detected as the second common BRCA1 gene defect (6.7%). The other mutations have identified as single nucleotide replacement including: c.792A>C, c.825G>C, c.822T>A, c.1068A>G, c.969A>T and c.966T>C.

Conclusion: The identified BRCA1 mutations were in accordance with the previous reports. To our knowledge, four mutations: (c.969InsC, c.792A>C, c.825G>C, c.822T>A) which have identified in this study, have not been previously reported in the literature. A larger cohort study would help identifying all relevant BRCA1 mutations in this population.

No MeSH data available.


Related in: MedlinePlus

Substitution of Adenine to Guanine at Nucleotide 1186 in exon 11 of BRCA1 Gene
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f2-IJCP-05-210: Substitution of Adenine to Guanine at Nucleotide 1186 in exon 11 of BRCA1 Gene

Mentions: All of the identified mutations have located within the amplified parts of exon 11 of BRCA1 gene (Table 3). No mutation has found in 16 cases (53.5%). Among the 28 examined chromosomes, nine different types of mutation have detected in 14 patients. Three out of the nine gene defects were synonymous: c.999T>A, c.966T>C and c.969A>T. A deletion of one adenine (c.1017delA) and insertion of one cytosine (c.969InsC) have found to be the most frequent (20%) mutations in this survey (Table 3). Substitution of thymine for adenine, c.999T>A, has detected as the second common BRCA1 gene defect (6.7%). The other mutations that have identified as single nucleotide replacement included: c.792A>C, c.825G>C, c.822T>A and c.1068A>G. The sequenced graph of the c.1068A>G mutation has shown in figure 2.


BRCA1 Gene Mutations in Breast Cancer Patients from Kerman Province, Iran.

Saleh-Gohari N, Mohammadi-Anaie M, Kalantari-Khandani B - Iran J Cancer Prev (2012)

Substitution of Adenine to Guanine at Nucleotide 1186 in exon 11 of BRCA1 Gene
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4209574&req=5

f2-IJCP-05-210: Substitution of Adenine to Guanine at Nucleotide 1186 in exon 11 of BRCA1 Gene
Mentions: All of the identified mutations have located within the amplified parts of exon 11 of BRCA1 gene (Table 3). No mutation has found in 16 cases (53.5%). Among the 28 examined chromosomes, nine different types of mutation have detected in 14 patients. Three out of the nine gene defects were synonymous: c.999T>A, c.966T>C and c.969A>T. A deletion of one adenine (c.1017delA) and insertion of one cytosine (c.969InsC) have found to be the most frequent (20%) mutations in this survey (Table 3). Substitution of thymine for adenine, c.999T>A, has detected as the second common BRCA1 gene defect (6.7%). The other mutations that have identified as single nucleotide replacement included: c.792A>C, c.825G>C, c.822T>A and c.1068A>G. The sequenced graph of the c.1068A>G mutation has shown in figure 2.

Bottom Line: A deletion of one adenine (c.1017delA) and insertion of one cytosine (c.969InsC) have found as the most frequent (20%) mutation in this survey.To our knowledge, four mutations: (c.969InsC, c.792A>C, c.825G>C, c.822T>A) which have identified in this study, have not been previously reported in the literature.A larger cohort study would help identifying all relevant BRCA1 mutations in this population.

View Article: PubMed Central - PubMed

Affiliation: Dept. of Genetics, Kerman University of Medical Sciences, Kerman, Iran.

ABSTRACT

Background: Breast cancer is the most common malignancy in Iranian women. Mutations in BRCA1 gene is one of the important genetic predisposing factors in breast cancer. This gene is a tumor suppressor that plays an important role in regulating the functions of RAD51 protein for strand invasion in homologous recombination repair.

Methods: The BRCA1 gene has amplified in the DNA isolated from breast cancer patients' leukocytes, using Polymerase Chain Reaction technique. The PCR products have sequenced using an automated DNA sequencer and subsequently obtained data have aligned with the human BRCA1 DNA sequences available online.

Results: In this study, we have considered nine different mutations on 60 examined chromosomes from 30 patients, living in Kerman province. A deletion of one adenine (c.1017delA) and insertion of one cytosine (c.969InsC) have found as the most frequent (20%) mutation in this survey. A substitution of thymine for adenine (c.999T>A) has detected as the second common BRCA1 gene defect (6.7%). The other mutations have identified as single nucleotide replacement including: c.792A>C, c.825G>C, c.822T>A, c.1068A>G, c.969A>T and c.966T>C.

Conclusion: The identified BRCA1 mutations were in accordance with the previous reports. To our knowledge, four mutations: (c.969InsC, c.792A>C, c.825G>C, c.822T>A) which have identified in this study, have not been previously reported in the literature. A larger cohort study would help identifying all relevant BRCA1 mutations in this population.

No MeSH data available.


Related in: MedlinePlus