PMID- 21922275 OWN - NLM STAT- MEDLINE DCOM- 20120430 LR - 20211020 IS - 1423-0380 (Electronic) IS - 1010-4283 (Linking) VI - 33 IP - 2 DP - 2012 Apr TI - Promoter methylation status and expression of estrogen receptor alpha in familial breast cancer patients. PG - 413-20 LID - 10.1007/s13277-011-0234-x [doi] AB - The hypermethylation of estrogen receptor alpha (ERalpha) promoter is a common molecular alteration in sporadic breast cancer (BC), but its involvement in familial BC remains largely unknown. In the present study, we analyzed the methylation statuses of four regions (ER1, ER3, ER4, and ER5) of the ERalpha promoter and the ERalpha expression levels of 113 familial BC patients in a Han Chinese Population from northeastern China and evaluated the association between major clinicopathological features and the hypermethylation statuses of the ERalpha gene. Tumor samples were analyzed for ERalpha methylation status by the methylation-specific polymerase chain reaction for ERalpha, PR, p53, BRCA-1, and BRCA-2 by immunohistochemical (IHC) staining and for Her-2 status by IHC and fluorescence in situ hybridization (FISH). ERalpha methylation was observed in tumor tissues in 47/113 (41.6%) familial BC patients. There were no significant differences in the methylation statuses among ER1 (20.4%), ER3 (18.6%), ER4 (17.7%), and ER5 (19.5%; chi (2) = 3.89, p > 0.05). An association between ERalpha expression level and its promoter methylation level was found. In addition, ERalpha methylation was significantly correlated with tumor size, PR expression, p53 nuclear accumulation, and BRCA-1 and BRCA-2 statuses. In conclusion, in familial BC patients, the level of ERalpha gene promoter methylation correlates with ERalpha expression, PR, p53 nuclear accumulation, and BRCA-1 and BRCA-2 statuses. Epigenetic alteration of ERalpha gene may play an important role in the pathogenesis of familial BC. FAU - Wei, Jing AU - Wei J AD - Departments of Breast Surgery and Surgical Oncology, Research Unit of General Surgery, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning Province, 110001, China. FAU - Han, Bing AU - Han B FAU - Mao, Xiao-yun AU - Mao XY FAU - Wei, Min-jie AU - Wei MJ FAU - Yao, Fan AU - Yao F FAU - Jin, Feng AU - Jin F LA - eng PT - Journal Article DEP - 20110916 PL - Netherlands TA - Tumour Biol JT - Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine JID - 8409922 RN - 0 (ESR1 protein, human) RN - 0 (Estrogen Receptor alpha) SB - IM MH - Adult MH - Breast Neoplasms/ethnology/*genetics MH - China MH - *DNA Methylation MH - Estrogen Receptor alpha/*genetics MH - Family Health MH - Female MH - Gene Expression Profiling/methods MH - *Gene Expression Regulation, Neoplastic MH - Genes, BRCA1 MH - Genes, BRCA2 MH - Humans MH - In Situ Hybridization, Fluorescence MH - Middle Aged MH - *Promoter Regions, Genetic EDAT- 2011/09/17 06:00 MHDA- 2012/05/01 06:00 CRDT- 2011/09/17 06:00 PHST- 2011/07/12 00:00 [received] PHST- 2011/08/26 00:00 [accepted] PHST- 2011/09/17 06:00 [entrez] PHST- 2011/09/17 06:00 [pubmed] PHST- 2012/05/01 06:00 [medline] AID - 10.1007/s13277-011-0234-x [doi] PST - ppublish SO - Tumour Biol. 2012 Apr;33(2):413-20. doi: 10.1007/s13277-011-0234-x. Epub 2011 Sep 16.