Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia
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DOI：
10.1182/blood-2003-09-3138
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发表时间：
2004-04-15
期刊：
影响因子：
20.3
通讯作者：
Auerbach, AD
中科院分区：
文献类型：
--
作者：
Wagner, JE;Tolar, J;Auerbach, AD
乳腺癌易感基因BRCA 2最近被鉴定为与范可尼贫血（FA）基因FANCD 1相同。在这里，我们扩展了这一发现的临床意义。值得注意的是，我们在5例表现出BRCA 2突变、FA和早发性急性白血病共同发生的kinematic中发现了6例儿童。BRCA 2患者白血病发病的中位年龄为2.2岁，而国际范可尼贫血登记处（IFAR; P <0.0001）中所有其他FA患者的中位发病年龄为13.4岁。5例中4例为乳腺癌。6例白血病患儿中，4例接受骨髓移植治疗，2例分别于治疗后3个月和9个月存活。我们的研究结果表明，BRCA 2检测应考虑在所有患者与FA中的互补组不能定义或在谁的白血病被诊断为5岁或之前。(C)2004年，美国血液学会。
The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia. Leukemia occurred at a median of 2.2 years of age in the BRCA2 patients in contrast to a median onset of 13.4 years in all other FA patients in the International Fanconi Anemia Registry (IFAR; P < .0001). Breast cancer was noted in 4 of the 5 kindreds. Of the 6 children with leukemia, 4 were treated with bone marrow transplantation and 2 are alive at 3 and 9 months after treatment. Our results suggest that BRCA2 testing should be considered in all patients with FA in whom the complementation group cannot be defined or in whom leukemia is diagnosed at or before 5 years of age. (C) 2004 by The American Society of Hematology.