Feasibility of Gynaecologist Led Lynch Syndrome Testing in Women with Endometrial Cancer.

Neil Aj Ryan,D Gareth Evans,Louise Donnelly,Katie Stocking,Emma J Crosbie

doi:10.3390/jcm9061842

Abstract

A barrier to Lynch syndrome testing is the need for prior genetic counselling, a resource demanding process for both patients and healthcare services. We explored the impact of gynaecologist led Lynch syndrome testing in women with endometrial cancer. Women were approached before surgery, on the day of surgery or during routine follow up. Lynch syndrome testing was offered irrespective of age, family history or tumour characteristics. Women’s reasons for being tested were explored using the Motivations and Concerns for GeNEtic Testing (MACGNET) instrument. The short form State-Trait Anxiety Inventory (STAI-6) was used to measure anxiety levels. Only 3/305 women declined Lynch syndrome testing. In total, 175/220 completed MACGNET and STAI-6 psychological instruments. The consent process took an average of 7 min 36 s (SD 5 min 16 s) to complete. The point of care at which consent was taken (before, day of surgery, during follow up) did not influence motivation for Lynch syndrome testing. Anxiety levels were significantly lower when women were consented during follow up (mean reversed STAI-6 score 32 vs. 42, p = 0.001). Anxiety levels were not affected by familial cancer history (p = 0.41). Gynaecologist led Lynch syndrome testing is feasible and may even be desirable in endometrial cancer, especially when offered during routine follow up.

Highlights

Endometrial cancer is the most common gynaecological cancer in developed countries and its incidence is rising [1]
Lynch syndrome is an autosomal dominant cancer predisposition syndrome arising from a dysfunctional mismatch repair (MMR) system [2]
Inherited pathogenic variants in MMR genes MLH1, MSH2, MSH6 or PMS2 predispose carriers to multiple malignancies, endometrial, colorectal and ovarian cancers, which typically occur at younger ages than sporadic tumours of the same sites [3]

Summary

Introduction

Endometrial cancer is the most common gynaecological cancer in developed countries and its incidence is rising [1]. Most cases are linked to lifestyle and reproductive factors but a significant minority is caused by Lynch syndrome. Endometrial cancer is often the first manifestation of Lynch syndrome in women, and as such offers an important diagnostic opportunity [4]. Lynch syndrome-associated endometrial tumours are characterized by heavy immune cell infiltrates and are exquisitely sensitive to immunotherapy [5]. A Lynch syndrome diagnosis enables participation in colorectal surveillance programmes and aspirin chemoprevention, strategies proven to reduce the risk of dying from subsequent cancers [3,6]. The benefits of diagnosis extend to close family members, who can access Lynch syndrome testing themselves and engage in risk reducing reproductive choices and preventive gynaecological surgery [7]

Objectives

Methods

Results

Conclusion