abstract (German)
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.
0 comments :
Post a Comment
Your comments?
Note: Only a member of this blog may post a comment.