The incidence of microsatellite instability and loss of heterozygosity in fibroadenoma of the breast
The incidence of microsatellite instability and loss of heterozygosity in fibroadenoma of the breast
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DOI：
10.1023/a:1005930429002
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发表时间：
1998-05-01
影响因子：
3.8
通讯作者：
Turbett, GR
中科院分区：
文献类型：
--
作者：
McCulloch, RK;Sellner, LN;Turbett, GR
大多数研究表明，以前诊断为纤维腺瘤（FA）的女性患乳腺癌的风险增加。目前，在乳腺癌中经常发现的某些染色体异常，如杂合性丢失（洛）是否已经存在于FA和其他类型的良性乳腺疾病中，以及如果存在，这些异常是否与观察到的风险增加有关，存在相互矛盾的证据。微卫星不稳定性（MSI）也被认为是遗传损伤的标志，被认为是当细胞的错配修复（MMR）系统受损时发生的。我们分析了39例从石蜡包埋组织中获得的FA在11个位点的MSI和洛的存在，以确定这些类型的遗传变异是否发生在FA中。MSI和洛的检出率分别为4/395（1.0%）和5/271（1.8%）。约8%的病例为MSI阳性，10%为洛阳性，其中1例标本同时存在MSI和洛。我们的结论是，这些形式的遗传变异确实发生在脂肪酸，但发病率很低。
A majority of studies have shown an increase in the risk of breast cancer among women previously diagnosed with fibroadenoma (FA). At present there is conflicting evidence whether Some of the chromosome abnormalities frequently found in breast carcinoma, such as loss of heterozygosity (LOH), are already present in FAs and other types of benign breast disease and, if present, whether such abnormalities are associated with the observed increase in risk. Microsatellite instability (MSI) is also recognised as a marker of genetic damage and is thought to occur when there has been damage to the cell's mismatch repair (MMR) system. We have analysed 39 cases of FA obtained from paraffin-embedded tissue for the presence of MSI and LOH at 11 loci to determine if these types of genetic alterations occur in FA. The incidence of MSI and LOH found were 4 of 395 (1.0%) and 5 of 271 (1.8%) informative loci tested respectively. Approximately 8% of cases were positive for MSI and 10% were positive for LOH, with one specimen having multiple occurences of both MSI and LOH. We conclude that these forms of genetic alteration do occur in FAs but that the incidence is low.