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Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer

  • Gynecologic Oncology
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Introduction

Lynch syndrome is known by healthcare providers mainly for patients with colorectal cancer. Awareness of other associated tumors, such as endometrial or ovarian cancer, is low. This study aimed to analyze the prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. In addition, the willingness of patients and family members to undergo germline mutation testing was investigated.

Methods

The medical records of all patients diagnosed with endometrial or ovarian cancer at the Department of Gynecology and Obsterics, University Hospital Dresden, between 1998 and 2012, were screened for a family history of HNPCC-associated cancer. Telephone interviews were used to screen, inform, and enroll patients in this genetic analysis study. Molecular analysis was performed by prescreening of tumor tissue, followed by germline mutation analysis.

Results

Two hundred and eighty-three patients were diagnosed with endometrial cancer, 291 with ovarian cancer, and 14 with both. A positive family history for tumors associated with Lynch syndrome was documented for 61 patients. Two pathogenic mutations in the genes MLH1 and MSH2 in nine genetic analyses had already been detected before. After genetic counseling, only 10 of 31 index patients (32.3 %) consented for mutation analysis. However, no additional pathogenic heterozygous mutations were found.

Conclusion

In this retrospective cohort study in unselected patients with endometrial or ovarian cancer, only a small number of patients with suspected Lynch syndrome could be identified. Of those, acceptance of germline analyses was moderate, only. As a result, the rate of identified pathogenic germline mutations was lower than expected. Therefore, we are convinced that more information on cancer risks, options for predictive molecular testing and preventive procedures, needs to be provided to patients and gynecologists.

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Acknowledgments

We would like to thank the German Consortium for Hereditary Non-Polyposis Colorectal Cancer (supported by the German Cancer Aid) for providing infrastructure and guidelines for interdisciplinary care. We would like to thank Prof. Dr. Hans K. Schackert and Dr. Heike Schackert for inspiration to do the work, molecular genetic analysis and proof-reading the manuscript. We thank Michael Hanna, Ph.D., for proof-reading the manuscript.

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Authors and Affiliations

  1. Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, TU Dresden, Fetscherstraße 74, 01307, Dresden, Germany

    Karin Kast, Catharina Dobberschütz, Carolin Eva Sadowski & Pauline Wimberger

  2. German Cancer Consortium (DKTK), Dresden, Germany

    Karin Kast, Catharina Dobberschütz, Carolin Eva Sadowski & Pauline Wimberger

  3. German Cancer Research Center (DKFZ), Heidelberg, Germany

    Karin Kast, Catharina Dobberschütz, Carolin Eva Sadowski & Pauline Wimberger

  4. Department of Visceral, Thoracic and Vascular Surgery, TU Dresden, Dresden, Germany

    Steffen Pistorius

  5. University Cancer Center (UCC) and Outpatient Clinic for Hereditary Gastrointestinal Tumors, TU Dresden, Dresden, Germany

    Steffen Pistorius

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  1. Karin Kast
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  2. Catharina Dobberschütz
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Correspondence to Karin Kast.

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Funding

No funding was provided for this study.

Conflict of interest

All authors declare no potential conflict of interest.

Research involving human participants and/or animals

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. The study has been approved by the institutional review board on September 25th 2012, No EK 183062012.

Informed consent

Informed consent was obtained from all individual participants included in the study before molecular genetic testing.

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Kast, K., Dobberschütz, C., Sadowski, C.E. et al. Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. Arch Gynecol Obstet 294, 1299–1303 (2016). https://doi.org/10.1007/s00404-016-4180-0

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  • DOI: https://doi.org/10.1007/s00404-016-4180-0

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