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

Tanakaya K1, Yamaguchi T2, Ishikawa H3, Hinoi T4, Furukawa Y5, Hirata K6, Saida Y7, Shimokawa M8, Arai M9, Matsubara N10, Tomita N10, Tamura K11,Sugano K12, Ishioka C13, Yoshida T14, Ishida H15, Watanabe T16, Sugihara K17; for HNPCC Registry and Genetic Testing Project of the Japanese Society for Cancer of the Colon and Rectum.

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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.