Cavalli L R, Noone A-M, Makambi K H, Rone J D, Kasid U N, Haddad B R
Department of Oncology, Georgetown University Medical Center, Washington, D.C., USA.
Cytogenet Genome Res. 2011;135(1):19-24. doi: 10.1159/000330265. Epub 2011 Aug 12.
The BH3-like motif-containing inducer of cell death (BLID) is an intronless gene localized on 11q24.1. Loss of that region has frequently been reported in early-onset breast cancer and is significantly associated with poor prognosis and reduced survival. Downregulation of BLID is associated with younger age, triple-negative phenotype, and reduced disease-free and overall survival of breast cancer patients. In this study, we investigated allelic loss of BLID in breast tumor specimens from 78 women with invasive breast cancer using 2 dinucleotide polymorphic markers closely linked to the BLID gene (no intragenic marker for BLID is available). Seventy-three cases were informative. Overall, loss of heterozygosity (LOH) at the BLID locus was detected in 32% of the informative cases (23/73). However, in patients 40 years old and younger, LOH was detected in 50% of the cases (9/18). Patients aged 40 years and younger were significantly more likely to experience LOH than those aged 41-55 years (p = 0.04). Specifically, the odds of BLID loss for patients aged 40 years and younger were 3.7 times the odds of loss for patients aged 41-55 years (95% CI, 1.1-13). Our findings suggest a tumor suppressor role of the BLID gene in early-onset breast cancer.
含BH3样基序的细胞死亡诱导因子（BLID）是一个无内含子基因，定位于11q24.1。该区域的缺失在早发性乳腺癌中经常被报道，并且与不良预后和生存率降低显著相关。BLID的下调与年龄较轻、三阴性表型以及乳腺癌患者无病生存期和总生存期缩短有关。在本研究中，我们使用与BLID基因紧密连锁的2个二核苷酸多态性标记物，对78例浸润性乳腺癌女性患者的乳腺肿瘤标本中BLID的等位基因缺失情况进行了研究（尚无BLID的基因内标记物）。73例具有信息性。总体而言，在32%的信息性病例（23/73）中检测到BLID基因座的杂合性缺失（LOH）。然而，在40岁及以下的患者中，50%的病例（9/18）检测到LOH。40岁及以下的患者比41-55岁的患者更易发生LOH（p = 0.04）。具体而言，40岁及以下患者发生BLID缺失的几率是41-55岁患者缺失几率的3.7倍（95%可信区间，1.1-13）。我们的研究结果表明BLID基因在早发性乳腺癌中具有肿瘤抑制作用。
