Causes of cancer death among first-degree relatives in Japanese families with lynch syndrome

Kohji Tanakaya, Tatsuro Yamaguchi, Hideki Ishikawa, Takao Hinoi, Yoichi Furukawa, Keiji Hirata, Yoshihisa Saida, Mototsugu Shimokawa, Masami Arai, Nagahide Matsubara, Naohiro Tomita, Kazuo Tamura, Kokichi Sugano, Chikashi Ishioka, Teruhiko Yoshida, Hideyuki Ishida, Toshiaki Watanabe, Kenichi Sugihara

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


Aim: To elucidate the causes of cancer death in Japanese families with Lynch syndrome (LS). Methods: The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed. Results: Among 98 cancer deaths of first-degree relatives of unknown mutation status, 53%, 19%, 13% (among females), 7% (among females) and 5% were due to colorectal, gastric, uterine, ovarian, and hepatobiliary cancer, respectively. The proportion of deaths from extra-colonic cancer was significantly higher in families with MSH2 mutation than in those with MLH1 mutation (p=0.003). Conclusion: In addition to colonic and uterine cancer, management and surveillance targeting gastric, ovarian and hepatobiliary cancer are considered important for Japanese families with LS. Extra-colonic cancer in families with MSH2 mutation might require for more intensive surveillance.

Original languageEnglish
Pages (from-to)1985-1989
Number of pages5
JournalAnticancer Research
Issue number4
Publication statusPublished - 2016 Apr


  • Causes of cancer deaths
  • First-degree relative
  • Japan
  • Lynch syndrome


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