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Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients.

Ahn SH, Hwang UK, Kwak BS, Yoon HS, Ku BK, Kang HJ, Kim JS, Ko BK, Ko CD, Yoon KS, Cho DY, Kim JS, Son BH - J. Korean Med. Sci. (2004)

Bottom Line: The study subjects consisted of 173 patients at clinically higher risk and 109 unselected patients.BRCA mutations were present in 12.7% of the high risk patients, compared with 2.8% of the unselected patients.Moreover, BRCA mutations were detected in 34.8% of patients having two high risk factors.

View Article: PubMed Central - PubMed

Affiliation: Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, Korea.

ABSTRACT
The incidence of breast cancer in Korea has been increasing in recent years, such that it is now the most common female cancer. Breast cancer in Korea is characterized by an earlier age of onset than in Western countries, suggesting that it would be related with genetic background. We assayed germline mutations in the BRCA genes to evaluate their genetic pathology in Korean breast cancer patients. The study subjects consisted of 173 patients at clinically higher risk and 109 unselected patients. Germline mutations in the entire coding sequences of the BRCA1 and BRCA2 genes were analyzed by Conformation-Sensitive Gel Electrophoresis (CSGE), and any aberrantly-sized band was sequenced. BRCA mutations were present in 12.7% of the high risk patients, compared with 2.8% of the unselected patients. Among high risk patients, mutations were most prevalent in patients with a family history of breast or first-degree ovarian cancer (22.1%), followed by those with male breast cancer (20%), bilateral breast cancer (20%), multiple organ cancer including breast (13%) and younger breast cancer patients (aged<35 yr) (8.1%). Moreover, BRCA mutations were detected in 34.8% of patients having two high risk factors. These findings suggest that BRCA gene mutation analysis should be performed on Korean patients with high-risk factors for breast cancer.

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Related in: MedlinePlus

A typical scan of a F-CSGE fragment which harbors the BRCA1 sequence variations T875C (panel B) and 1041_1043delAGCinsT (panel D) in comparison with the wild-type control (panel A, C).
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Figure 1: A typical scan of a F-CSGE fragment which harbors the BRCA1 sequence variations T875C (panel B) and 1041_1043delAGCinsT (panel D) in comparison with the wild-type control (panel A, C).

Mentions: Once a subset of PCR products with an aberrant CSGE pattern had been identified, the PCR products were re-amplified using the same primers as for CSGE and subjected to DNA sequencing in both directions on an ABI3700 genetic analyzer (Applied Biosystems) (Fig. 1).


Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients.

Ahn SH, Hwang UK, Kwak BS, Yoon HS, Ku BK, Kang HJ, Kim JS, Ko BK, Ko CD, Yoon KS, Cho DY, Kim JS, Son BH - J. Korean Med. Sci. (2004)

A typical scan of a F-CSGE fragment which harbors the BRCA1 sequence variations T875C (panel B) and 1041_1043delAGCinsT (panel D) in comparison with the wild-type control (panel A, C).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2822310&req=5

Figure 1: A typical scan of a F-CSGE fragment which harbors the BRCA1 sequence variations T875C (panel B) and 1041_1043delAGCinsT (panel D) in comparison with the wild-type control (panel A, C).
Mentions: Once a subset of PCR products with an aberrant CSGE pattern had been identified, the PCR products were re-amplified using the same primers as for CSGE and subjected to DNA sequencing in both directions on an ABI3700 genetic analyzer (Applied Biosystems) (Fig. 1).

Bottom Line: The study subjects consisted of 173 patients at clinically higher risk and 109 unselected patients.BRCA mutations were present in 12.7% of the high risk patients, compared with 2.8% of the unselected patients.Moreover, BRCA mutations were detected in 34.8% of patients having two high risk factors.

View Article: PubMed Central - PubMed

Affiliation: Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, Korea.

ABSTRACT
The incidence of breast cancer in Korea has been increasing in recent years, such that it is now the most common female cancer. Breast cancer in Korea is characterized by an earlier age of onset than in Western countries, suggesting that it would be related with genetic background. We assayed germline mutations in the BRCA genes to evaluate their genetic pathology in Korean breast cancer patients. The study subjects consisted of 173 patients at clinically higher risk and 109 unselected patients. Germline mutations in the entire coding sequences of the BRCA1 and BRCA2 genes were analyzed by Conformation-Sensitive Gel Electrophoresis (CSGE), and any aberrantly-sized band was sequenced. BRCA mutations were present in 12.7% of the high risk patients, compared with 2.8% of the unselected patients. Among high risk patients, mutations were most prevalent in patients with a family history of breast or first-degree ovarian cancer (22.1%), followed by those with male breast cancer (20%), bilateral breast cancer (20%), multiple organ cancer including breast (13%) and younger breast cancer patients (aged<35 yr) (8.1%). Moreover, BRCA mutations were detected in 34.8% of patients having two high risk factors. These findings suggest that BRCA gene mutation analysis should be performed on Korean patients with high-risk factors for breast cancer.

Show MeSH
Related in: MedlinePlus