Department of Biology and Genetics, Medical University of Gdansk, Poland.
J Appl Genet. 2009;50(4):379-84. doi: 10.1007/BF03195697.
Loss of heterozygosity at BRCA1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respectively. Losses of all informative markers on chromosomes 17 and 13 occurred in 30 (19.9%) and 31 (20.5%) tumors, respectively. There was no difference in the frequency of losses at BRCA1 intragenic markers (D17S855 and D17S1323) between BRCA1-positive and BRCA1-negative patients. The frequency of losses on chromosome 17 was higher in high-grade than in low-grade carcinomas. Loss of heterozygosity on chromosomes 17 and 13q is a frequent phenomenon in both hereditary and sporadic ovarian cancers. The frequency of losses at BRCA1 intragenic markers in the ovarian tumor tissue is not strongly related to the presence of BRCA1 germline mutations.
BRCA1/2 基因座杂合性缺失是种系 BRCA1/2 突变状态的一个潜在风险因素。我们评估了选定的微卫星标记在遗传性和散发性卵巢肿瘤中 17 号和 13q 染色体上的缺失情况。对 151 例连续的原发性卵巢肿瘤（包括 21 例有 BRCA1/2 突变和 130 例无突变）进行了 17 号和 13q 染色体上的杂合性缺失检测。在 123 例（81.5%）和 104 例（68.9%）肿瘤中分别发现了至少一个位于 17 号和 13q 染色体上的微卫星标记的杂合性缺失。在 30 例（19.9%）和 31 例（20.5%）肿瘤中，17 号和 13 号染色体上所有信息标记均丢失。BRCA1 阳性和 BRCA1 阴性患者之间，BRCA1 基因内标记（D17S855 和 D17S1323）的缺失频率没有差异。高级别癌比低级别癌的 17 号染色体缺失频率更高。17 号和 13q 染色体的杂合性缺失是遗传性和散发性卵巢癌中常见的现象。卵巢肿瘤组织中 BRCA1 基因内标记的缺失频率与 BRCA1 种系突变的存在并不密切相关。
