InSiGHT MMR Integrative Evaluation

We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD
Contact: Dr Bryony Thompson

Prior probability derived from Thompson et al. 2013
Segregation and Tumour odds calculated using the methods described in Thompson et al. 2014, Thompson et al. 2013, Li et al. 2020
Functional odds for MLH1 and MSH2 calculated using the methods described in Drost el al. 2018 and Drost et al. 2020
Penetrance estimates for MLH1 and MSH2 are from Jenkins et al. 2015 and Dowty et al 2013; MSH6 from Baglietto et al. 2010; PMS2 from ten Broeke et al. 2015