Background Nasopharyngeal carcinoma (NPC) has a striking geographic/ethnic
distribution with especially high rates among southern Chinese. Previous st
udies have indicated that a family history of NPC is associated with increa
sed risk and noted familial clustering in low-risk populations Materials an
d Methods: We investigated differences between sporadic and familial cases
of NPC in a case-control study, of 375 histologically confirmed NPC cases (
99% response late) and 328 age-, sex-, and geographically-matched controls
(88% response rate). All participants answered a derailed risk factor inter
view and donated blood for EBV and CYP 2E1 testing Results: Subjects with a
first degree relative with NPC had an odds ratio (OR) of 7.6 (95% confiden
ce interval (CI) =2.3-25), while those with a family history of any other c
ancer had only a slightly elevated risk of disease (OR=1.4; 95% CI=.93-2.2)
. Of the cases, 25 (6.7%) were familial-having at least one first degree re
lative with NPC. No significant difference was seen between familial and sp
oradic cases with respect to sex, age, ethnicity, histology or stage. There
was a nonsignificant (p =0.16) increase in TIN2 tumors among familial case
s, suggesting a more aggressive tumor. Family history of other cancers, EBV
serologies, or the distribution of the Rsal c2 form of the allele of cytoc
hrome P450 2E1 were also not significantly different between the two groups
. Conclusions: In conclusion, while genetic factors ale likely to play an i
mportant role in NPC pathogenesis, our results provide little evidence that
a familial form of NPC exists with characteristics notably distinct from s
poradic cases.