Nasopharyngeal carcinoma (NPC) has a striking geographical and ethnical distribution. It occurs with high frequency in southern China and Southeast Asia. Family clustering was also observed in NPC and a typical family with 15 NPC cases was introduced in this paper. Epidemiological and genetic studies have been carried out in the previous decades and vast information was accumulated for familiar NPC, in terms of risk factors, inheritance mode, and involvement of gene polymorphisms. The major findings in this field were summarized. Furthermore, future directions leading to understanding the genetic mechanism of the familial form of NPC was also discussed.

Objective To gain a better understanding of genetic changes in Cantonese nasopharyngeal carcinoma (NPC). Methods Comparative genomic hybridization (CGH) was performed on 17 primary nasopharyngeal carcinomas.Results A novel copy number gain an chromosome 4q and loss of chromosome lp were found at a high frequency (>50%). Conclusions Current analysis revealed a comprehensive profile of the chromosomal regions showing gain of chromosomes 4q, 12q, and lq as well as loss of chromosomes 1p, 3p, 11q, 14q, 15q, 13q, Xq, 9q, 10p, 10q, and 16q. Frequently altered loci may encode oncogenes or tumor suppressor genes involved in the development of primary NPC.

Nasopharyngeal carcinoma (NPC) occurs with high frequency in Asian populations, especially among people of Cantonese ancestry. In areas with high incidence, NPC clusters in families, which suggests that both geography and genetics may influence disease risk1-6. Although the HLA-Bw46 locus is associated with increased risk of NPC7,8, no predisposing genes have been identified so far. Here we report the results of a genome-wide search carried out in families at high risk of NPC from Guangdong Province, China. Parametric analyses provide evidence of linkage to the D4S405 marker on chromosome 4 with a logarithm of odds for linkage (Iod) score of 3.06 and a heterogeneity-adjusted Iod (hlod) score of 3.21. Fine mapping with additional markers flanking D4S405 resulted in a lod score of 3.54 and hlod score of 3.67 for the region 4p15.1-q12. Multipoint nonparametric linkage analysis gives Iod scores of 3.54 at D4S405 (P=5.4

HER2 (c-erbB-2) has been suggested to be a prognostic factor in a variety of human cancers including breast, gastric and ovarian cancers. This study is therefore designed to ide~ntify changes of HER2 in nasopharyngeal carcinoma (NPC). an epithelia-derived malignancy with strong racial and geographic distribution. Interphase FISH and immunriohistochemical (IHC) staining were used to analyze the gene copy number and protein expression of HER2 in 45 cases of NPC from Guangzhou. Southern China. an area with the highest incidence of NPC in the world. Our results, however, found no significant alterations in gene copy number for HER2, although IHC staining detected expression of HER2 oncoprotein in 33% Of the 45 NPC tumors. No correlation was observed between HER2 expression and sex, age and clinical outcome of the patients. T stage, lymph node status, site and histopathological grading of-the tumors. These results cast doubt on the value of HER2 as a prognostic factor for NPC.