Triple-negative breast cancer: BRCAness and concordance of clinical features with BRCA1-mutation carriers.
Triple-negative breast cancer: BRCAness and concordance of clinical features with BRCA1-mutation carriers.
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DOI：
10.1038/bjc.2013.144
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发表时间：
2013-05-28
影响因子：
8.8
通讯作者：
Nederlof PM
中科院分区：
文献类型：
--
作者：
Lips EH;Mulder L;Oonk A;van der Kolk LE;Hogervorst FB;Imholz AL;Wesseling J;Rodenhuis S;Nederlof PM
BRCAness被定义为散发性癌症和BRCA突变癌症之间的共同肿瘤特征。然而，如何准确地测量BRCAness及其在乳腺癌中的频率尚不清楚。建立BRCAness的检测对于这些肿瘤的临床治疗将是非常有价值的。我们评估了一大批三阴性乳腺癌(TNBCs)的BRCAness特征频率。作为BRCAness的一个衡量标准，我们通过阵列比较基因组杂交(ACGH)和BRCA1启动子甲基化检测了来自3个不同患者队列的377个TNBCs中特定的BRCA1样模式。所有肿瘤的临床病理数据均可获得，BRCA1胚系突变状态和化疗反应数据可用于子集。在肿瘤中，66-69%有类似BRCA1的aCGH谱，27-37%有BRCA1启动子甲基化。BRCA1胚系突变和BRCA1启动子甲基化是互斥事件(P=1×10−5)。BRCAness与年龄较小和3级肿瘤相关。BRCA1突变肿瘤的化疗有效率显著高于BRCA1突变肿瘤(63%(12/19)对35%(18/52)的病理完全缓解率)。大多数TNBCs表现为BRCAness，这些肿瘤与BRCA1突变的肿瘤具有相同的临床病理特征。更好地描述TNBC和BRCAness的存在可能会对遗传性乳腺癌筛查和这些肿瘤的治疗产生影响。
BRCAness is defined as shared tumour characteristics between sporadic and BRCA-mutated cancers. However, how to exactly measure BRCAness and its frequency in breast cancer is not known. Assays to establish BRCAness would be extremely valuable for the clinical management of these tumours. We assessed BRCAness characteristics frequencies in a large cohort of triple-negative breast cancers (TNBCs). As a measure of BRCAness, we determined a specific BRCA1-like pattern by array Comparative Genomic Hybridisation (aCGH), and BRCA1 promoter methylation in 377 TNBCs, obtained from 3 different patient cohorts. Clinicopathological data were available for all tumours, BRCA1-germline mutation status and chemotherapy response data were available for a subset. Of the tumours, 66–69% had a BRCA1-like aCGH profile and 27–37% showed BRCA1 promoter methylation. BRCA1-germline mutations and BRCA1 promoter methylation were mutually exclusive events (P=1 × 10−5). BRCAness was associated with younger age and grade 3 tumours. Chemotherapy response was significantly higher in BRCA1-mutated tumours, but not in tumours with BRCAness (63% (12 out of 19) vs 35% (18 out of 52) pathological complete remission rate, respectively). The majority of the TNBCs show BRCAness, and those tumours share clinicopathological characteristics with BRCA1-mutated tumours. A better characterisation of TNBC and the presence of BRCAness could have consequences for both hereditary breast cancer screening and the treatment of these tumours.
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影响因子：
45.3
作者：
Kwon, Janice S.;Gutierrez-Barrera, Angelica M.;Arun, Banu
通讯作者：
Arun, Banu
影响因子：
5.2
作者：
Gausachs, Mireia;Mur, Pilar;Capella, Gabriel
通讯作者：
Capella, Gabriel
DOI：
10.1093/annonc/mdq624
发表时间：
2011-07
期刊：
Annals of oncology : official journal of the European Society for Medical Oncology
影响因子：
--
作者：
Vollebergh MA;Lips EH;Nederlof PM;Wessels LFA;Schmidt MK;van Beers EH;Cornelissen S;Holtkamp M;Froklage FE;de Vries EGE;Schrama JG;Wesseling J;van de Vijver MJ;van Tinteren H;de Bruin M;Hauptmann M;Rodenhuis S;Linn SC
通讯作者：
Linn SC
自动化阵列CGH用于用于档案中的福尔马林固定，石蜡包裹的肿瘤材料。
影响因子：
3.8
作者：
Joosse, Simon A.;van Beers, Erik H.;Nederlof, Petra M.
通讯作者：
Nederlof, Petra M.
影响因子：
45.3
作者：
Silver, Daniel P.;Richardson, Andrea L.;Garber, Judy E.
通讯作者：
Garber, Judy E.