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首页> 外文期刊>Acta Obstetricia et Gynecologica Scandinavica: Official Publication of the Nordisk Forening for Obstetrik och Gynekologi >Identification of BRCA1-deficient ovarian cancers.
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Identification of BRCA1-deficient ovarian cancers.

机译：鉴定BRCA1缺陷型卵巢癌。

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摘要

Objective. It is believed that 24-40% of ovarian cancers have dysfunction in the BRCA1 or BRCA2 (BRCAness) genes, due to either inherited or somatic mutations or due to epigenetic inactivation. Demonstration of ovarian cancers with BRCAness is becoming important both due to the possibility of offering genetic counseling and due to beneficial effects of polyadenosine diphosphate ribose polymerase inhibitor treatment in this group. As DNA sequencing is expensive and time consuming, efforts have been devoted to develop more indirect methods for BRCA screening that can improve the selection of patients for sequence-based BRCA testing. Design. BRCA1 immunohistochemistry, fluorescence in situ hybridization (FISH) and methylation analyses were performed on formalin-fixed, paraffin-embedded ovarian cancer tissue. Sample. Fifty-four ovarian cancers; 15 BRCA1 cancers, four BRCA2 cancers, 10 cancers from patients with a family history but no mutation detected, and 25 ovarian cancers with unknown BRCA1 status. Results. Abnormal BRCA1 immunohistochemistry was found to indicate BRCA mutations with a sensitivity of 80%, a specificity of 93% and an estimated positive predictive value of 73%. The FISH analyses supported the diagnosis in most cases. Methylation analyses could indicate BRCA deficiency in combination with one of the other methods. Conclusions. BRCA1 immunohistochemistry is a promising screening method for BRCA1 mutation detection.
机译：目的。据信，由于遗传或体细胞突变或表观遗传失活，有24-40％的卵巢癌在BRCA1或BRCA2（BRCAness）基因中功能异常。由于提供遗传咨询的可能性以及由于该组中聚腺苷二磷酸核糖聚合酶抑制剂治疗的有益作用，证明具有BRCAness的卵巢癌变得越来越重要。由于DNA测序昂贵且费时，因此人们致力于开发更多间接的BRCA筛选方法，以改善基于序列BRCA检测的患者选择。设计。在福尔马林固定，石蜡包埋的卵巢癌组织上进行了BRCA1免疫组织化学，荧光原位杂交（FISH）和甲基化分析。样品。五十四种卵巢癌; 15例BRCA1癌症，4​​例BRCA2癌症，10例有家族史但未发现突变的患者的癌症，以及25例BRCA1状态未知的卵巢癌。结果。发现BRCA1免疫组织化学异常表明BRCA突变的敏感性为80％，特异性为93％，估计的阳性预测值为73％。 FISH分析在大多数情况下都支持诊断。甲基化分析可能表明与其他方法之一结合起来，BRCA缺乏。结论BRCA1免疫组织化学是用于BRCA1突变检测的有前途的筛选方法。

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