Mutations at BRCA1: the medullary breast carcinoma revisited.
Mutations at BRCA1: the medullary breast carcinoma revisited.
复制标题
BRCA1 突变：回顾髓样乳腺癌。
作者：
F. Eisinger;J. Jacquemier;C. Charpin;D. Stoppa;B. Paillerets;J. Peyrat;M. Longy;J. Guinebretière;R. Sauvan;T. Noguchi;D. Birnbaum;H. Sobol
BRCA1相关乳腺癌(BRCA1-BCS)通常具有高组织预后分级、P53改变和雌激素受体阴性。虽然这些参数预示着一个糟糕的前景，但BRCA1-BCS的总体存活率与散发性病例相当，甚至更好。这些特征让人联想到髓质型乳腺癌，这是一种具有特殊有利病程的高级别肿瘤。为了探索这种表型与BRCA1突变之间的可能关系，我们首先使用Ridolfi等人给出的标准比较了32例BRCA1-BCS和200例连续的无家族病史的乳腺癌患者的典型髓样乳腺癌(TMC)的患病率。[R.Ridolfi等人，癌症(菲拉)，40：1365-1385,1977]。其次，我们用变性梯度凝胶电泳法和裂解酶片段长度多态性扫描技术检测了18例TMC中BRCA1基因突变。32例BRCA1-BC中有6例(19%)为TMC型，而对照组为0(P<；0.0001)。在18例TMC中，发现2例BRCA1无义突变。这相当于BRCA1突变在普通人群中的贡献几乎是7倍。另外两个错义突变被鉴定出来。综上所述，这些结果表明，尽管TMC和BRCA1-BCS并不是严格意义上的巧合，但这两个群体之间确实存在重要的联系。
BRCA1-associated breast cancers (BRCA1-BCs) frequently harbor a high histoprognostic grade, p53 alterations, and estrogen receptor negativity. Although these parameters predict a poor outlook, the overall survival in BRCA1-BCs is equivalent to or even better than that in sporadic cases. These features are reminiscent of what is observed for breast carcinoma of the medullary type, a high-grade tumor with a particular favorable course. To explore a possible relationship between this phenotype and BRCA1 mutations, we first compared 32 BRCA1-BCs and 200 consecutive cases of breast cancer without familial history for the prevalence of typical medullary breast carcinoma (TMC) using the criteria given by Ridolfi et al. [R. Ridolfi et al, Cancer (Phila.), 40: 1365-1385, 1977]. Second, we searched for BRCA1 mutations in a set of 18 cases of TMC, using denaturing gradient gel electrophoresis and Cleavase fragment length polymorphism scanning. Six of 32 (19%) BRCA1-BCs were of the TMC type, compared to 0 of 200 controls (P < 0.0001). Among the 18 TMCs, 2 BRCA1 nonsense mutations were found. This corresponds to almost 7 times the contribution of BRCA1 mutations in the general population. Two additional missense mutations were identified. Together, these results suggest that, although TMC and BRCA1-BCs are not strictly coincidental, an important connection between the two populations does exist.
影响因子：
56.9
作者：
FUTREAL, PA;LIU, QY;WISEMAN, R
通讯作者：
WISEMAN, R
影响因子：
56.9
作者：
MIKI, Y;SWENSEN, J;SKOLNICK, MH
通讯作者：
SKOLNICK, MH