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Eur J Med Genet. 2009 Nov-Dec;52(6):381-5. doi: 10.1016/j.ejmg.2009.07.003. Epub 2009 Jul 24.

Early onset, multiple primary malignancies, and poor prognosis are indicative of an inherited predisposition to esophageal squamous cell carcinoma for the familial as opposed to the sporadic cases--an update on over 14-year survival.

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Epidemiology, Hebei Cancer Institute and The Fourth Hospital of Hebei Medical University, Jiankanglu 12, Hebei Medical University, Shijiazhuang 050011, China.



To demonstrate the effect of an inherited predisposition in familial Esophageal Squamous Cell Carcinoma (ESCC) as opposed to the sporadic cancer form.


Differences in age of onset, prevalence rates of double primary ESCC, and post-operative survival rates between ESCC cases with (N = 476) and without (N = 1226) a family history of upper gastrointestinal cancer (FHUGIC, defined as having one or more first- or second-degree relatives with cancer of the esophagus or gastric cardia) were analyzed.


Overall, familial ESCC cases show a significantly earlier onset age (51.9 +/- 8.2 versus 53.4 +/- 8.0, P(t)(-test) = .000), a significantly higher prevalence rate of double primary ESCC (2.73% Versus 1.22%, adjusted with TNM: X(MH)(2) = 4.029, P = .045), and a worse prognosis than the sporadic cases (P(wald) = .049). In subgroup analyses, the familial cases showed earlier onset and poor survival at most subgroups as opposed to the sporadic cases, and the difference was greater in early-stage rather than in late-stage groups (P(t-test) for difference in onset age in T(is,1)N0M0, T(2,3)N0M0, and T(2,3,4)N1M0 were .002, .006, and .081 respectively; and P(wald) for difference in survival in T(is,1)N0M0, T(2,3)N0M0, and in T(2,3,4)N1M0 were .010, .180, and .520 respectively).


These findings suggest the existence of familial as opposed to the sporadic ESCC. By the theory of "two-hit" origin of cancer, these findings also suggest that the "first hit", a genetic predisposition, is inherited in familial ESCC.

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