Journal article
Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy
F Najdawi, A Crook, J Maidens, C McEvoy, A Fellowes, J Pickett, M Ho, D Nevell, K McIlroy, A Sheen, L Sioson, M Ahadi, J Turchini, A Clarkson, R Hogg, S Valmadre, G Gard, SJ Dooley, RJ Scott, SB Fox Show all
Pathology | ELSEVIER SCIENCE BV | Published : 2017
Abstract
Despite a trend towards universal testing, best practice to screen patients presenting with gynaecological malignancy for Lynch syndrome (LS) is uncertain. We report our institutional experience of a co-ordinated gynaecological LS screening program. All patients with endometrial carcinoma or carcinosarcoma, or gynaecological endometrioid or clear cell carcinomas undergo reflex four panel immunohistochemistry (IHC) for MLH1, PMS2, MSH2 and MSH6 followed by cascade somatic hypermethylation analysis of the MLH1 promoter locus for dual MLH1/PMS2 negative tumours. On the basis of these results, genetic counselling and targeted germline mutation testing is then offered to patients considered at hi..
View full abstractGrants
Funding Acknowledgements
This project was supported by the Sydney Vital, Translational Cancer Research, through a Cancer Institute NSW competitive grant. The views expressed herein are those of the authors and are not necessarily those of the Cancer Institute NSW. The authors state that there are no conflicts of interest to disclose.