Kohji Tanakaya1, Tatsuro Yamaguchi2, Hideki Ishikawa3, Takao Hinoi4, Yoichi Furukawa5, Keiji Hirata6, Yoshihisa Saida7, Mototsugu Shimokawa8, Masami Arai9, Nagahide Matsubara10, Naohiro Tomita10, Kazuo Tamura11, Kokichi Sugano12, Chikashi Ishioka13, Teruhiko Yoshida14, Hideyuki Ishida15, Toshiaki Watanabe16, Kenichi Sugihara17. 1. Department of Surgery, Iwakuni Clinical Center, Iwakuni, Japan. 2. Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan. 3. Department of Molecular-Targeting Cancer Prevention, Kyoto Prefectural University of Medicine, Kyoto, Japan. 4. Department of Gastroenterological and Transplant Surgery, Applied Life Sciences, Institute of Biomedical & Health Sciences, Hiroshima University, Hiroshima, Japan. 5. Division of Clinical Genome Research, Advanced Clinical Research Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan. 6. Department of Surgery 1, University of Occupational and Environmental Health, Kitakyushu, Japan. 7. Department of Surgery, Toho University Ohashi Medical Center, Tokyo, Japan. 8. Clinical Research Institute, National Kyushu Cancer Center, Fukuoka, Japan. 9. Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, Japan. 10. Department of Surgery, Hyogo College of Medicine, Nishinomiya, Japan. 11. Major in Science, Graduate School of Science and Engineering Research, Kinki University, Higashiosaka, Japan. 12. Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center, Utsunomiya, Japan. 13. Department of Clinical Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan. 14. Genetics Division, National Cancer Center Research Institute, Tokyo, Japan. 15. Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, Japan 05hishi@saitama-med.ac.jp. 16. Department of Surgical Oncology, The University of Tokyo, Tokyo, Japan. 17. Tokyo Medical and Dental University, Tokyo, Japan.
Abstract
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. Copyright
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. Copyright