Santos S C L, Cavalli L R, Cavalli I J, Lima R S, Haddad B R, Ribeiro E M S F
Departamento de Genética, Universidade Federal do Parana, Curitiba, PR, 81531-970 Brazil.
J Clin Pathol. 2004 Apr;57(4):374-7. doi: 10.1136/jcp.2003.013490.
The evaluation of allelic losses at the FHIT and the BRCA1 genes and at three other loci at the 17q region in a series of 34 sporadic breast cancer cases from Southern Brazil.
The samples were evaluated for loss of heterozygosity (LOH) at the FHIT and the BRCA1 genes and at three other microsatellite markers at 17q, and the findings were correlated with clinicopathological parameters.
The BRCA1 intragenic marker, D17S855, had the highest frequency of LOH, detected in 10 of 24 informative cases, followed by the D17S579 (six of 23 informative cases), D17S806 (five of 21 informative cases), and D17S785 markers (five of 21 informative cases). LOH at the FHIT intragenic marker, D3S1300, was found in six of 25 informative cases. In four of the six cases with LOH of the FHIT gene, there was concomitant loss of the BRCA1 intragenic marker.
The frequency of allelic losses in the FHIT and BRCA1 loci in the Southern Brazilian population is similar to that described in the general population. No correlations were found when the total LOH frequency was compared with tumour size, grade, or presence of axillary lymph node metastasis. Further studies using larger sporadic breast cancer samples and additional markers would be useful to confirm these findings, in addition to establishing more specific associations with clinicopathological parameters in this specific population.
评估巴西南部34例散发性乳腺癌病例中FHIT基因、BRCA1基因以及17q区域其他三个位点的等位基因缺失情况。
对样本进行FHIT基因、BRCA1基因以及17q区域其他三个微卫星标记的杂合性缺失(LOH)评估,并将结果与临床病理参数相关联。
BRCA1基因内标记D17S855的LOH频率最高,在24例信息充分的病例中有10例检测到,其次是D17S579(23例信息充分的病例中有6例)、D17S806(21例信息充分的病例中有5例)和D17S785标记(21例信息充分的病例中有5例)。FHIT基因内标记D3S1300的LOH在25例信息充分的病例中有6例被发现。在FHIT基因LOH的6例病例中,有4例同时存在BRCA1基因内标记的缺失。
巴西南部人群中FHIT和BRCA1位点的等位基因缺失频率与一般人群中描述的频率相似。当将总LOH频率与肿瘤大小、分级或腋窝淋巴结转移情况进行比较时,未发现相关性。使用更大的散发性乳腺癌样本和更多标记进行进一步研究,除了在该特定人群中建立与临床病理参数更具体的关联外,将有助于证实这些发现。