Familial Cancer

, Volume 11, Issue 3, pp 467–471

Causes of death of mutation carriers in Finnish Lynch syndrome families

Authors

    • Department of SurgeryJyväskylä Central Hospital
  • Tuula Lehtinen
    • Division of Gastroenterology, Department of SurgeryHelsinki University Hospital
  • Ilmo Kellokumpu
    • Department of SurgeryJyväskylä Central Hospital
  • Heikki Järvinen
    • Division of Gastroenterology, Department of SurgeryHelsinki University Hospital
  • Jukka-Pekka Mecklin
    • Department of SurgeryJyväskylä Central Hospital
    • University of Eastern Finland
Original Article

DOI: 10.1007/s10689-012-9537-3

Cite this article as:
Pylvänäinen, K., Lehtinen, T., Kellokumpu, I. et al. Familial Cancer (2012) 11: 467. doi:10.1007/s10689-012-9537-3

Abstract

Lynch syndrome (LS) is an autosomal dominant cancer syndrome including increased life-long risk for colorectal (CRC) and endometrial (EC) cancer, but also for cancers of other types. The risk for CRC is up to 70–80 % and for EC up to 50–60 %. Due to screening and early diagnosing the mortality related to CRC and EC seems to be low. In spite of many studies on surveillance of mutation carriers, there is no comprehensive evaluation on causes of death in LS families. The disease history and cause of death of all the deceased, tested mutation carriers and their mutation negative relatives in the Finnish LS families (N = 179) was examined utilizing hospital records and relevant national registries. Out of 1069 mutation carriers 151 had succumbed; 97 (64 %) from cancer. Out of 1146 mutation-negative family 44 members had died; 11 (25 %) of them from cancer. In 12 (7.7 %) of the deceased mutation carriers no cancer had been diagnosed. The mean age of death from cancer was 63.2 years vs. 68.8 years from non-cancer causes. Only 7.9 % of the patients with CRC had died from CRC and 5 % of those with EC, respectively. 61 % of the cancer deaths were related to extra-colonic, extra-endometrial cancers. The cumulative overall and cancer specific death rates were significantly increased in Mut+ compared to Mut− family members. Even surveillance yields decrease in the life-long risk and mortality of the most common cancers CRC and EC in LS, almost all mutation carriers will contract with cancer, and two thirds of the deceased have died from cancer. This should be taken in account in genetic counseling. Mutation carriers should be encouraged to seek help for abnormal symptoms.

Keywords

Lynch syndromeHereditary non-polyposis colorectal cancerHNPCCCause of deathColorectal cancerCancer family syndrome

Abbreviations

HNPCC

Hereditary non-polyposis colorectal cancer

LS

Lynch syndrome

MMR

Mismatch repair

CRC

Colorectal cancer

EC

Endometrial cancer

Mut+

Tested mutation carriers

Mut−

Tested mutation-negative family member

Copyright information

© Springer Science+Business Media B.V. 2012