Genetic factors play an important role in shaping the biologic characteristics of malignant
tumors, especially in young patients. We aimed to determine the clinicopathologic features of
endometrial cancer (EC) in patients younger than 50 years with a family history of
cancer.Overall, 229 patients with EC, including 40 with a positive family history of
cancer (PFH) and 189 with a negative family history of
cancer (NFH), were enrolled in this case-control study. The family history of
cancer in a 2-generation pedigree was recorded for the PFH group. Clinicopathologic features such as menarche age, body mass index, personal
cancer history, grade, and histologic type were compared between the 2 groups. Mismatch repair (MMR)
proteins including MLH1, PMS2, MSH2, and MSH6 were assessed by immunohistochemistry (IHC) in surgical samples. Univariate (Pearson Chi-squared test, Fisher exact test, T test, Wilcoxon rank sum test, logistic regression) statistics and stepwise multivariate logistic regression were used to identify factors associated with PFH in the analysis.Among young patients with EC, the PFH group had younger age-of-onset age of
endometrial cancer (≤40 years) (odds ratio [OR] = 2.21, 95% confidence interval [95% CI]: 1.01-4.82) than the NFH group. The proportion of
overweight/obese patients was high in both the NFH (58.7%) and PFH (80%) groups. Colorectal, lung, endometrial, breast, and
hepatocellular carcinoma accounted for 58.6% of all
cancer types among 1st- and 2nd-degree relatives. Additionally, 19.2% of patients displayed deficiency in at least 1 MMR
protein, with a significantly higher proportion of MMR
protein deficiency in the PFH group than in the NFH group (adjusted OR = 4.81, 95% CI: 2.14-8.83).Clinicopathologic features differ for young patients with EC with and without a family history of
cancer. Surveillance of age-of-onset and family history of
endometrial cancer, reduction of barriers to healthy lifestyles, and development of risk-appropriate
Lynch syndrome screening tools, such as IHC, are needed for these women in Shanghai and other developing cities in China.