Skip to main content
SpringerLink
Log in

Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures

  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

Hereditary non polyposis colorectal cancer (HNPCC) is a hereditary predisposition to colorectal and endometrial cancer, caused by mutations of the mismatch repair (MMR) genes MSH2, MLH1 and MSH6. Regular colonoscopy reduces the incidence of colorectal cancer in mutation carriers dramatically. The aim of this study was to evaluate the use of colonoscopy by proven HNPCC mutation carriers. We also evaluated the satisfaction with the counseling and screening procedures at the long term. A questionnaire survey was performed among 94 proven MMR gene mutation carriers. Data were analyzed using univariate and multivariate analysis. The average time of follow-up was 3,5 years (range 0.5–8.5 years). The response rate was 74%. The proportion of unaffected mutation carriers under colonoscopic screening increased from 31 to 88% upon genetic testing, and for gynecological screening from 17 to 69%. However, more than half of the responders experienced colonoscopy as unpleasant or painful. About 97% felt well informed during counseling, and 88% felt sufficiently supported. Ten percent of the responders reported a high cancer worry that was significantly (P = 0.007) associated with a high perceived cancer risk. Six responders (9%) regretted being tested. Remarkably, of 4 of these 6 a close relative died recently of cancer. Problems with obtaining a disability or life insurance or mortgage were experienced by 4 out 10 healthy carriers opting for these services. In conclusion, genetic testing for HNPCC considerably improves compliance for screening, which will result in a reduction of HNPCC-related cancer morbidity and mortality in mutation carriers. Most HNPCC gene mutation carriers cope well with their cancer susceptibility on the long term.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. R Fishel MK Lescoe MR Rao et al. (1993) ArticleTitleThe human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer Cell 75 1027–38 Occurrence Handle10.1016/0092-8674(93)90546-3 Occurrence Handle8252616 Occurrence Handle1:CAS:528:DyaK2cXktVaitr8%3D

    Article  PubMed  CAS  Google Scholar 

  2. CE Bronner SM Baker PT Morrison et al. (1994) ArticleTitleMutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer Nature 368 258–61 Occurrence Handle10.1038/368258a0 Occurrence Handle8145827 Occurrence Handle1:CAS:528:DyaK2cXktVKht7c%3D

    Article  PubMed  CAS  Google Scholar 

  3. M Miyaki M Konishi K Tanaka et al. (1997) ArticleTitleGermline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer Nat Genet 17 271–2 Occurrence Handle9354786 Occurrence Handle1:CAS:528:DyaK2sXntVShtbg%3D

    PubMed  CAS  Google Scholar 

  4. Y Akiyama H Sato T Yamada et al. (1997) ArticleTitleGerm-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred Cancer Res 57 3920–3 Occurrence Handle9307272 Occurrence Handle1:CAS:528:DyaK2sXmtFehs70%3D

    PubMed  CAS  Google Scholar 

  5. MG Dunlop SM Farrington AD Carothers et al. (1997) ArticleTitleCancer risk associated with germline DNA mismatch repair gene mutations Hum Mol Genet 6 105–10 Occurrence Handle10.1093/hmg/6.1.105 Occurrence Handle9002677 Occurrence Handle1:CAS:528:DyaK2sXlslCmtg%3D%3D

    Article  PubMed  CAS  Google Scholar 

  6. M Aarnio R Sankila E Pukkala et al. (1999) ArticleTitleCancer risk in mutation carriers of DNA mismatch repair genes Int J Cancer 81 214–8 Occurrence Handle10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L Occurrence Handle10188721 Occurrence Handle1:STN:280:DyaK1M3gt1Kjtg%3D%3D

    Article  PubMed  CAS  Google Scholar 

  7. HF Vasen A Stormorken FH Menko et al. (2001) ArticleTitleMSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families J Clin Oncol 19 4074–80 Occurrence Handle11600610 Occurrence Handle1:STN:280:DC%2BD3MrlsVSgsw%3D%3D

    PubMed  CAS  Google Scholar 

  8. A Wagner Y Hendriks EJ Meijers-Heijboer et al. (2001) ArticleTitleAtypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree J Med Genet 38 318–22 Occurrence Handle10.1136/jmg.38.5.318 Occurrence Handle11333868 Occurrence Handle1:CAS:528:DC%2BD3MXkt1Cnur0%3D

    Article  PubMed  CAS  Google Scholar 

  9. HJ Jarvinen M Aarnio H Mustonen et al. (2000) ArticleTitleControlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer Gastroenterology 118 829–34 Occurrence Handle10.1016/S0016-5085(00)70168-5 Occurrence Handle10784581 Occurrence Handle1:STN:280:DC%2BD3c3kslahtg%3D%3D

    Article  PubMed  CAS  Google Scholar 

  10. RW Burt (2000) ArticleTitleColon cancer screening Gastroenterology 119 837–53 Occurrence Handle10.1053/gast.2000.16508 Occurrence Handle10982778 Occurrence Handle1:STN:280:DC%2BD3cvnt1arsg%3D%3D

    Article  PubMed  CAS  Google Scholar 

  11. L Renkonen-Sinisalo P Sipponen M Aarnio et al. (2002) ArticleTitleNo support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer Scand J Gastroenterol 37 574–7 Occurrence Handle10.1080/00365520252903134 Occurrence Handle12059060 Occurrence Handle1:STN:280:DC%2BD38zhs1alsg%3D%3D

    Article  PubMed  CAS  Google Scholar 

  12. I Dove-Edwin D Boks S Goff et al. (2002) ArticleTitleThe outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma Cancer 94 1708–12 Occurrence Handle10.1002/cncr.10380 Occurrence Handle11920532

    Article  PubMed  Google Scholar 

  13. DW Hadley JF Jenkins E Dimond et al. (2004) ArticleTitleColon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer J Clin Oncol 22 39–44 Occurrence Handle14701766

    PubMed  Google Scholar 

  14. InstitutionalAuthorNameAmerican Society of Clinical Oncology Policy Statement Update (2003) ArticleTitleGenetic testing for cancer susceptibility J Clin Oncol 21 2397–2406

    Google Scholar 

  15. C Lerman B Trock BK Rimer et al. (1991) ArticleTitlePsychological and behavioral implications of abnormal mammograms Ann Intern Med 114 657–61 Occurrence Handle2003712 Occurrence Handle1:STN:280:By6C28nhs1M%3D

    PubMed  CAS  Google Scholar 

  16. K Aktan-Collan A Haukkala JP Mecklin et al. (2001) ArticleTitleComprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer J Med Genet 38 787–92 Occurrence Handle10.1136/jmg.38.11.787 Occurrence Handle11732490 Occurrence Handle1:STN:280:DC%2BD3MnosFyitA%3D%3D

    Article  PubMed  CAS  Google Scholar 

  17. M McAllister (2003) ArticleTitlePersonal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing Clin Genet 64 179–89 Occurrence Handle10.1034/j.1399-0004.2003.00133.x Occurrence Handle12919131 Occurrence Handle1:STN:280:DC%2BD3szotleqsw%3D%3D

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Clinical Genetics, Erasmus University Medical Center, Westzeedijk 112-114, AH Rotterdam, 3016, The Netherlands

    Anja Wagner, Ingrid van Kessel, Conny A. van der Meer, Iris I. H. van Oostrom & Hanne Meijers-Heijboer

  2. Department of Clinical Oncology, Erasmus University Medical Center, Rotterdam, The Netherlands

    Mieke G. Kriege

  3. Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

    Carli M. J. Tops & Juul Th. Wijnen

  4. The Netherlands Foundation for the Detection of Hereditary Tumors, Leiden, The Netherlands

    Hans F. A. Vasen

Authors
  1. Anja Wagner
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ingrid van Kessel
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mieke G. Kriege
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Carli M. J. Tops
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Juul Th. Wijnen
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Hans F. A. Vasen
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Conny A. van der Meer
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Iris I. H. van Oostrom
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Hanne Meijers-Heijboer
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Anja Wagner.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wagner, A., van Kessel, I., Kriege, M.G. et al. Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures. Familial Cancer 4, 295–300 (2005). https://doi.org/10.1007/s10689-005-0658-9

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-005-0658-9

Keywords:

Search

Navigation