N22: Family Case Of Rare MSH6 Variant Identified As Secondary Finding – Shall We Screen For Lynch?

T. Szemes1, 2, 3

1 – Geneton Ltd. 2 – Comenius University Science Park. 3 – Faculty of Natural Sciences.


Aim: In Slovakia, the incidence of colorectal cancer is one of the highest worldwide and could be a result of higher incidence of  cancer predisposing syndromes, such as Lynch syndrome. Novel large gene panel, exome or whole genome tests become less costly and widely available which allow detection of cancer predisposing genetic variants. In addition, novel non-invasive methods for tumor screening (liquid biopsy) become available as well.

Screening for genetic cancer predisposing syndromes and accordingly adjusted cancer screening regimes with inclusion of liquid biopsy methods could be viable options but the implementation and social aspects need to be studied.

Method: A clinical exome test was carried out in 20yo male. Identification of variants relevant for secondary findings was carried out too. Identified variants were verified by Sanger sequencing. A family follow-up included clinical exome test as well as Sanger confirming tests.

Results: We identified a rare potentially pathogenic variant in MSH6 gene in 20yo male as secondary finding. In addition a rare BRCA2 variant was also detected and confirmed. Despite family cancer history did not meet used criteria it was tested for these variants.

A suspected case of metastatic breast cancer in the family was confirmed in 65yo female bearing the  in 12/2017 and a suspected case od CRC was identified in 67yo male bearing the MSH6 variant.

All family members adherred to required medical procedures after genetic testing.

Conclusion: Genomic tests and their wider availability with novel liquid biopsy methods offer novel cancer screening algorithm options. A case of family with two detected variants in both BRCA2 and MSH6 a secondary finding shows possible benefits but social aspects have to be considered for wider implementation.