Gynecologic screening in hereditary nonpolyposis colorectal cancer

Gynecol Oncol. 2003 Oct;91(1):74-80. doi: 10.1016/s0090-8258(03)00371-8.


Objective: In hereditary nonpolyposis colorectal cancer (HNPCC), women with a mismatch repair (MMR) gene mutation have a cumulative lifetime risk of 25-50% for endometrial cancer and 8-12% for ovarian cancer. Therefore, female members of HNPCC families are offered an annual gynecologic and transvaginal ultrasound (TVU) examination and serum level CA 125 analysis. The aim of the present study was to evaluate our 10-year experience with this screening program.

Methods: Women who are MMR gene mutation carriers or who fulfil the Amsterdam criteria were identified from our HNPCC database. Information concerning the screening program was retrospectively collected from patient files.

Results: Forty-one women, 35 premenopausal and 6 postmenopausal, were enrolled in the program with a median follow-up of 5 years (range 5 months-11 years). In 197 patient years at risk, 17 of 179 TVUs gave reason for endometrial sampling. Three premalignant lesions, with complex atypical hyperplasia, were discovered. One interval endometrial cancer was detected as a result of clinical symptoms. No abnormal CA 125 levels were measured and no ovarian cancers were detected.

Conclusions: These results demonstrate that gynecologic screening allows the detection of premalignant lesions of the endometrium but also illustrate that recognition and reporting of clinical symptoms by the women themselves is of utmost importance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Endometrial Neoplasms / diagnostic imaging
  • Endometrial Neoplasms / genetics
  • Endometrial Neoplasms / prevention & control
  • Female
  • Genital Neoplasms, Female / diagnostic imaging
  • Genital Neoplasms, Female / genetics*
  • Genital Neoplasms, Female / prevention & control
  • Humans
  • Mass Screening
  • Middle Aged
  • Ovarian Neoplasms / diagnostic imaging
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / prevention & control
  • Ultrasonography