Huiping C, Johannsdottir J T, Arason A, Olafsdottir G H, Eiriksdottir G, Egilsson V, Ingvarsson S
Department of Pathology, University and National Hospital of Iceland, Reykjavik, Iceland.
Oncol Rep. 1999 Jan-Feb;6(1):117-22.
Replication errors (RER) at microsatellite repeats indicate genomic instability in hereditary nonpolyposis colorectal cancer (HNPCC) and in some sporadic cancers. We have studied genomic instability in 313 sporadic breast tumors and in 106 tumors from BRCA2, 999del5 carriers at 43 genomic loci on 13 chromosomes. RER was observed in 8/419 (1.9%) of the cases at one or more chromosomal loci. The frequencies of type I and type II RER were similar. The majority of RER+ tumors showed ER+, PgR+, high S-phase fraction, tumor size >2 cm and LOH at 2p, 2q and 3p. All 8 RER+ tumors were of the ductal histotype. The breast cancer cases with RER are not part of an HNPCC syndrome and a family history of colorectal cancer growth is not detected in relatives, with the exception of one case. However, four of the RER+ cases are from individuals carrying the BRCA2, 999del5 mutation. We conclude that RER is a rare somatic event during human breast carcinogenesis and may be associated with progression of breast carcinomas.
微卫星重复序列处的复制错误（RER）表明遗传性非息肉病性结直肠癌（HNPCC）及某些散发性癌症中存在基因组不稳定。我们研究了313例散发性乳腺肿瘤以及106例来自BRCA2 999del5携带者的肿瘤在13条染色体上43个基因组位点的基因组不稳定情况。在8/419（1.9%）的病例中，在一个或多个染色体位点观察到了RER。I型和II型RER的频率相似。大多数RER+肿瘤表现为ER+、PgR+、高S期分数、肿瘤大小>2 cm以及2p、2q和3p处的杂合性缺失（LOH）。所有8例RER+肿瘤均为导管组织学类型。伴有RER的乳腺癌病例不属于HNPCC综合征，除1例之外，在亲属中未检测到结直肠癌家族史。然而，4例RER+病例来自携带BRCA2 999del5突变的个体。我们得出结论，RER是人类乳腺癌发生过程中一种罕见的体细胞事件，可能与乳腺癌的进展相关。
