Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome

• Published in: Anticancer research 2016-04, Vol.36 (4), p.1985-1989
• Main Authors: Tanakaya, Kohji, Yamaguchi, Tatsuro, Ishikawa, Hideki, Hinoi, Takao, Furukawa, Yoichi, Hirata, Keiji, Saida, Yoshihisa, Shimokawa, Mototsugu, Arai, Masami, Matsubara, Nagahide, Tomita, Naohiro, Tamura, Kazuo, Sugano, Kokichi, Ishioka, Chikashi, Yoshida, Teruhiko, Ishida, Hideyuki, Watanabe, Toshiaki, Sugihara, Kenichi
• Format: Article
• Language: English
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group - genetics; Biliary Tract Neoplasms - genetics; Biliary Tract Neoplasms - mortality; Cause of Death; Colonic Neoplasms - genetics; Colonic Neoplasms - mortality; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - mortality; DNA-Binding Proteins - genetics; Family; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Male; Middle Aged; MutL Protein Homolog 1; MutS Homolog 2 Protein - genetics; Nuclear Proteins - genetics; Ovarian Neoplasms - genetics; Ovarian Neoplasms - mortality; Risk Factors; Stomach Neoplasms - genetics; Stomach Neoplasms - mortality; Uterine Neoplasms - genetics; Uterine Neoplasms - mortality
• ISSN: 1791-7530

To elucidate the causes of cancer death in Japanese families with Lynch syndrome (LS). 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. 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). 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.