Familial Cancer

, 8:431 | Cite as

Strategies for endometrial screening in the Lynch syndrome population: a patient acceptability study

  • K. Elmasry
  • A. J. Davies
  • D. G. Evans
  • M. N. Seif
  • K. Reynolds


Lynch syndrome is an autosomal dominant syndrome accounting for 2–5% of all colorectal cancer. In addition, women with Lynch syndrome have a substantially increased risk of developing endometrial cancer particularly pre-menopausally when symptom detection is more difficult. Current recommendations are that screening for endometrial cancer be offered to women identified to be at risk. The aim of the study was to assess the relative patient acceptability of the available screening modalities. A survey of the perception of the associated pain or discomfort associated with different screening modalities was conducted. Transvaginal ultrasonography was associated with less discomfort than hysteroscopy or Pipelle biopsy, and would be the single test of choice for the majority. There was no significant difference between the pain scores for hysteroscopy and Pipelle biopsy. Issues relating to test acceptability specific to this population are described. Patient acceptability of screening modalities should form an integral part of studies assessing the effectiveness of endometrial screening in the Lynch syndrome population.


Lynch syndrome HNPCC Endometrial cancer Screening Hysteroscopy Transvaginal ultrasonography Acceptability 


  1. 1.
    Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK et al (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368(6468):258–261CrossRefPubMedGoogle Scholar
  2. 2.
    Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116(6):1453–1456CrossRefPubMedGoogle Scholar
  3. 3.
    Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81(2):214–218CrossRefPubMedGoogle Scholar
  4. 4.
    Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71(3):677–685CrossRefPubMedGoogle Scholar
  5. 5.
    Watson P, Vasen HF, Mecklin JP, Jarvinen H, Lynch HT (1994) The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer. Am J Med 96(6):516–520CrossRefPubMedGoogle Scholar
  6. 6.
    Vasen HF, Watson P, Mecklin JP, Jass JR, Green JS, Nomizu T et al (1994) The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Res 14(4B):1675–1678PubMedGoogle Scholar
  7. 7.
    Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J et al (1997) Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 6(1):105–110CrossRefPubMedGoogle Scholar
  8. 8.
    Banno K, Susumu N, Yanokura M, Hirao T, Iwata T, Hirasawa A et al (2004) Association of HNPCC and endometrial cancers. Int J Clin Oncol 9(4):262–269CrossRefPubMedGoogle Scholar
  9. 9.
    Lu HK, Broaddus RR (2005) Gynecologic cancers in Lynch syndrome/HNPCC. Fam Cancer 4(3):249–254CrossRefPubMedGoogle Scholar
  10. 10.
    Brown GJ, St John DJ, Macrae FA, Aittomaki K (2001) Cancer risk in young women at risk of hereditary nonpolyposis colorectal cancer: implications for gynecologic surveillance. Gynecol Oncol 80(3):346–349CrossRefPubMedGoogle Scholar
  11. 11.
    Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P et al (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118(5):829–834CrossRefPubMedGoogle Scholar
  12. 12.
    Pylvanainen K, Kairaluoma M, Mecklin JP (2006) Compliance and satisfaction with long-term surveillance in Finnish HNPCC families. Fam Cancer 5(2):175–178CrossRefPubMedGoogle Scholar
  13. 13.
    Collins V, Meiser B, Gaff C, St John DJ, Halliday J (2005) Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma. Cancer 104(2):273–281CrossRefPubMedGoogle Scholar
  14. 14.
    Burke W, Petersen G, Lynch P, Botkin J, Daly M, Garber J et al (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. Jama 277(11):915–919CrossRefPubMedGoogle Scholar
  15. 15.
    Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM et al (1997) A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89(23):1758–1762CrossRefPubMedGoogle Scholar
  16. 16.
    American-Cancer-Society. Can endometrial cancer be found early?Google Scholar
  17. 17.
    Downes E, al-Azzawi F (1993) The predictive value of outpatient hysteroscopy in a menopause clinic. Br J Obstet Gynaecol 100(12):1148–1149PubMedGoogle Scholar
  18. 18.
    Karlsson B, Granberg S, Wikland M, Ylostalo P, Torvid K, Marsal K et al (1995) Transvaginal ultrasonography of the endometrium in women with postmenopausal bleeding—a Nordic multicenter study. Am J Obstet Gynecol 172(5):1488–1494CrossRefPubMedGoogle Scholar
  19. 19.
    Taipale P, Tarjanne H, Heinonen UM (1994) The diagnostic value of transvaginal sonography in the diagnosis of endometrial malignancy in women with peri- and postmenopausal bleeding. Acta Obstet Gynecol Scand 73(10):819–823CrossRefPubMedGoogle Scholar
  20. 20.
    Tahir MM, Bigrigg MA, Browning JJ, Brookes ST, Smith PA (1999) A randomised controlled trial comparing transvaginal ultrasound, outpatient hysteroscopy and endometrial biopsy with inpatient hysteroscopy and curettage. Br J Obstet Gynaecol 106(12):1259–1264PubMedGoogle Scholar
  21. 21.
    Goldstein SR, Zeltser I, Horan CK, Snyder JR, Schwartz LB (1997) Ultrasonography-based triage for perimenopausal patients with abnormal uterine bleeding. Am J Obstet Gynecol 177(1):102–108CrossRefPubMedGoogle Scholar
  22. 22.
    Wilson JMG, Junger G (1968) Principles and practice of screening for disease. WHO, GenevaGoogle Scholar
  23. 23.
    Vasen HF, Mecklin JP, Khan PM, Lynch HT (1994) The International Collaborative Group on HNPCC. Anticancer Res 14(4B):1661–1664PubMedGoogle Scholar
  24. 24.
    Dove-Edwin I, Boks D, Goff S, Kenter GG, Carpenter R, Vasen HF et al (2002) The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer 94(6):1708–1712CrossRefPubMedGoogle Scholar
  25. 25.
    Rijcken FE, Mourits MJ, Kleibeuker JH, Hollema H, van der Zee AG (2003) Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 91(1):74–80CrossRefPubMedGoogle Scholar
  26. 26.
    Dijkhuizen FP, Mol BW, Brolmann HA, Heintz AP (2000) The accuracy of endometrial sampling in the diagnosis of patients with endometrial carcinoma and hyperplasia: a meta-analysis. Cancer 89(8):1765–1772CrossRefPubMedGoogle Scholar
  27. 27.
    Clark TJ, Mann CH, Shah N, Khan KS, Song F, Gupta JK (2002) Accuracy of outpatient endometrial biopsy in the diagnosis of endometrial cancer: a systematic quantitative review. Bjog 109(3):313–321PubMedGoogle Scholar
  28. 28.
    Wood NJ, Munot S, Sheridan E, Duffy SR (2008) Does a “one-stop” gynecology screening clinic for women in hereditary nonpolyposis colorectal cancer families have an impact on their psychological morbidity and perception of health? Int J Gynecol Cancer 18(2):279–284CrossRefPubMedGoogle Scholar
  29. 29.
    Stewart-Brown S, Farmer A (1997) Screening could seriously damage your health. BMJ 314:533PubMedGoogle Scholar
  30. 30.
    Marteau TM, Kidd J, Cook R (1988) Screening for Down’s syndrome. BMJ 297(6661):1469CrossRefPubMedGoogle Scholar
  31. 31.
    Cockburn J, Staples M, Hurley SF (1994) Psychological consequences of screening mammography. J Med Screen 1:7–12PubMedGoogle Scholar
  32. 32.
    Williams GL, Clarke P, Vellacott KD (2006) Anxieties should not be forgotten when screening relatives of colorectal cancer patients by colonoscopy. Colorectal Dis 8:781–784CrossRefPubMedGoogle Scholar
  33. 33.
    Katz DA, Jarrard DF, McHorney CA (2007) Health perceptions in patients who undergo screening and workup for prostate cancer. Urology 69:215–220CrossRefPubMedGoogle Scholar
  34. 34.
    Lau WC, Lo WK, Tam WH, Yuen PM (1999) Paracervical anaesthesia in outpatient hysteroscopy: a randomised double-blind placebo-controlled trial. Br J Obstet Gynaecol 106(4):356–359PubMedGoogle Scholar
  35. 35.
    Jacobs I (2005) Screening for familial ovarian cancer: the need for well-designed prospective studies. J Clin Oncol 23(24):5443–5445CrossRefPubMedGoogle Scholar
  36. 36.
    Bell R, Petticrew M, Luengo S, Sheldon TA (1998) Screening for ovarian cancer: a systematic review. Health Technol Assess 2(2):1–84 i–ivGoogle Scholar
  37. 37.
    Evans DG, Gaarenstroom KN, Stirling D, Shenton A, Maehle L, Dørum A et al (2008) Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers. J Med Genet. doi: 10.1136/jmg.2008.058248

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • K. Elmasry
    • 1
  • A. J. Davies
    • 2
  • D. G. Evans
    • 3
  • M. N. Seif
    • 4
  • K. Reynolds
    • 5
  1. 1.Department of Gynaecological OncologyGuy’s & St Thomas’ and Maidstone HospitalsLondonUK
  2. 2.Department of Obstetrics and GynaecologyRoyal Preston HospitalPrestonUK
  3. 3.Medical Genetics Research Group, Central Manchester Foundation TrustSt Mary’s HospitalManchesterUK
  4. 4.Academic Department of Obstetrics & GynaecologySt Mary’s HospitalManchesterUK
  5. 5.Department of Gynaecological OncologySt. Bartholomew’s and The Royal London HospitalLondonUK

Personalised recommendations