The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer

Gynecol Oncol. 2014 Jun;133(3):526-30. doi: 10.1016/j.ygyno.2014.03.012. Epub 2014 Mar 13.


Objective: We aimed to estimate the incidence rate of endometrial cancer (EC) and to evaluate the results of EC-surveillance in hereditary nonpolyposis colorectal cancer (HNPCC) families.

Methods: All at-risk women recommended for EC-surveillance by the HNPCC-register-2959 women (19,334women years)-were included. Data on EC-surveillance were available for 871 women (6894women years), who had performed 1945 surveillance visits. The average surveillance period was 7.9 (range 0.1-21.7) years and 46% of the women had had less than 3years between their visits.

Results: During 19,334women years, 60 women with gynecological malignancies or premalignancies were diagnosed. Thirty-nine women had EC. Of these, 31 were from families with identified MMR gene mutations with the median age at diagnosis of 54 (39-83) years (Incidence Rate, IR=0.63 per 100women years) and four women from each Amsterdam (AMS)-positive and AMS-like families (median age 64 (55-73) years, IR=0.06 and 0.05 per 100women years, respectively, p<.0001). Among the 871 surveilled women, 13 EC were found: 7/13 cases were diagnosed by surveillance examination-two as prevalent cancers, diagnosed at the first visit-and 6/13 based on symptoms. In addition, five complex atypical hyperplasias and four ovarian cancers (OCs) were diagnosed. All these women were MMR mutation carriers.

Conclusion: Based on 19,334women years of EC-surveillance, our analysis provides a thorough estimation of the EC risk in women with an MMR mutation, or suspected of having Lynch syndrome. We conclude that EC surveillance should only be targeted at MMR-mutation carriers.

Keywords: Endometrial cancer; Gynecologic surveillance; HNPCC; Lynch syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / epidemiology*
  • Adenocarcinoma / genetics
  • Adult
  • Aged
  • Aged, 80 and over
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Mismatch Repair / genetics
  • Early Detection of Cancer / methods*
  • Endometrial Hyperplasia / diagnosis
  • Endometrial Hyperplasia / epidemiology
  • Endometrial Hyperplasia / genetics
  • Endometrial Neoplasms / diagnosis
  • Endometrial Neoplasms / epidemiology*
  • Endometrial Neoplasms / genetics
  • Fallopian Tube Neoplasms / diagnosis
  • Fallopian Tube Neoplasms / epidemiology*
  • Fallopian Tube Neoplasms / genetics
  • Female
  • Genetic Predisposition to Disease
  • Gynecological Examination
  • Humans
  • Incidence
  • Middle Aged
  • Mutation
  • Neoplasms, Second Primary / diagnosis
  • Neoplasms, Second Primary / epidemiology*
  • Neoplasms, Second Primary / genetics
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / epidemiology*
  • Ovarian Neoplasms / genetics
  • Patient Selection