DiagMMR™ assay validation sample collection Proposal for collaboration: DiagMMR™ assay validation sample collection Functional Lynch syndrome carrier testing from skin

DiagMMR™ method recognizes reduced DNA mismatch repair (MMR) BACKGROUND: The DiagMMR method recognizes individuals with decreased MMR capacity (i.e. Lynch syndrome), who therefore have a significantly elevated cancer risk. The method has been optimized to distinguish MLH1, MSH2 and MSH6 mutation carriers from non-affected individuals. VALIDATION: To test the sensitivity and specificity of the assay we are collecting samples from LS family members with a known pathogenic MLH1, MSH2 or MSH6 variation (verified mutation carriers). In order to apply the DiagMMR method to the clinical screening of LS carriers a rigorous validation with samples representing a variety of MMR gene mutations is required. SAMPLE: We are collecting fresh dermal tissue samples typically taken from the inner forearm. The sample is placed into provided DiagMMR media for timely courier shipping at our expense. SKIN LS

We are collecting samples from Lynch syndrome mutation carriers with a known pathogenic (class 5) MMR gene mutation (MLH1, MSH2 and MSH6). Applying for ethical approval Prior to the sample collection you are will require the ethical approval from your local regulatory bodies. We will help you with this process and provide you with all the information you need! Contact us If you are able to contribute to the sample collection please contact us at minttu.kansikas@helsinki.fi so that we can send you more detailed information about the method, the sample collection, patient participation etc. Read more about us at www.lscancerdiag.com / http://blogs.helsinki.fi/episusceptibility/