Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: A cross-sectional study conducted by the Japanese society for cancer of the colon and rectum

HNPCC Registry and Genetic Testing Project of the Japanese Society for Cancer of the Colon and Rectum

研究成果: Article

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Objective: The characteristics of familial colorectal cancer type X are poorly defined. Herewe aimed to clarify the differences in clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients. Methods: We performed germline mutation analyses of mismatch repair genes in 125 patients. Patients who met the Amsterdam Criteria I but lacked mismatch repair gene mutations were diagnosed with suspected familial colorectal cancer type X. Results: We identified 69 patients with Lynch syndrome and 25 with suspected familial colorectal cancer typeX. The frequencies of gastric and extracolonic Lynch syndrome-associated cancerswere lower with suspected familial colorectal cancer type X than with Lynch syndrome. The number of organs with Lynch syndrome-associated cancerwas significantly lowerwith suspected familial colorectal cancer type X than with Lynch syndrome. The cumulative incidence of extracolonic Lynch syndromeassociated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. We estimated that the median cancer risk in 60-year-old patients with Lynch syndrome was 89, 36 and 24% for colorectal, endometrial and gastric cancers, respectively. Analyses of family members, including probands, revealed that themedian age at diagnosis of extracolonic Lynch syndrome-associated cancer was significantly older with suspected familial colorectal cancer type X than with Lynch syndrome. The frequency of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. Conclusion: A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome.

元の言語English
ページ(範囲)153-159
ページ数7
ジャーナルJapanese journal of clinical oncology
45
発行部数2
DOI
出版物ステータスPublished - 2015 2 1

ASJC Scopus subject areas

  • Oncology
  • Radiology Nuclear Medicine and imaging
  • Cancer Research

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