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Archives of Gynecology and Obstetrics

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01-12-2016 | Gynecologic Oncology

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

Authors: Karin Kast, Catharina Dobberschütz, Carolin Eva Sadowski, Steffen Pistorius, Pauline Wimberger

Published in: Archives of Gynecology and Obstetrics | Issue 6/2016

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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Title: Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer
Authors: Karin Kast
Catharina Dobberschütz
Carolin Eva Sadowski
Steffen Pistorius
Pauline Wimberger
Publication date: 01-12-2016
Publisher: Springer Berlin Heidelberg
Published in: Archives of Gynecology and Obstetrics / Issue 6/2016
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-016-4180-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Introduction

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusion

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