Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea.

We screened large genomic rearrangements of the BRCA1 and BRCA2 genes in Korean, familial breast cancer patients. Multiplex ligation-dependent probe amplification assay was used to identify BRCA1 and BRCA2 genomic rearrangements in 226 Korean familial breast cancer patients with risk factors for BRCA1 and BRCA2 mutations, who previously tested negative for point mutations in the two genes. We identified only one large deletion (c.4186-1593_4676-1465del) in BRCA1. No large rearrangements were found in BRCA2. Our result indicates that large genomic rearrangement in the BRCA1 and BRCA2 genes does not seem like a major determinant of breast cancer susceptibility in the Korean population. A large-scale study needs to validate our result in Korea.

Breast conserving surgery for multifocal breast cancer.

OBJECTIVE: The purpose of this study is to examine the oncological safety of breast conserving surgery (BCS) for patients with multifocal breast cancer. SUMMARY BACKGROUND DATA: Few studies have reported about BCS for multifocal breast cancer. BCS for multifocal cancer has a risk of local failure in previous reports, whereas recent studies reported the feasibility of BCS. However, because all studies have dealt with a small number of patients, multifocal breast cancer is still considered a relative contraindication for BCS. METHODS: This retrospective study includes 478 patients with multifocal breast cancer who underwent BCS or mastectomy and 930 with unifocal cancer who underwent BCS for stage 0-II. Multifocal cancer was defined as 2 or more distinct cancers in the same quadrant. Of 478 patients, 147 underwent BCS and 331 underwent mastectomy. We compared the local recurrence rate (LRR), disease free survival, and overall survival for BCS with mastectomy for multifocal cancer. In addition, the LRR of BCS for multifocal cancer was compared for unifocal cancer. RESULTS: There is no significant difference in stage distribution and other clinical and pathologic characteristics except Her-2/neu for stage IIA between BCS and mastectomy for multifocal cancer. The mean follow-up period was 59.33 months (range, 1.00-177.20) for breast conserving group and 64.98 months (range, 6.23-196.03) for mastectomy group. The 5-year overall survival was 93.38% for BCS and 94.53% for mastectomy (log rank P = 0.208). The 5-year disease-free survival was 89.08% for BCS and 91.88% for mastectomy (log rank P = 0.451). The local failure occurred in 3 (2.0%) of 147 patient underwent BCS, 3 (0.9%) of 331 patients underwent mastectomy (P = 0.378). Compared with BCS for unifocal cancer patients, the LRR of patients with multifocal cancer was not statistically different (2.0% for multifocal, 1.3% for unifocal; P = 0.445). CONCLUSIONS: Our study demonstrates that BCS for multifocal breast cancer is oncologically safe in selected patients.

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

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.