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Research Projects

Multidisciplinary approach to evaluate the pathogenicity of missense mutations causing hereditary breast cancer

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In collaboration with NN Petrov Institute of Oncology, St Petersburg, Russia we undertook a multidisciplinary approach to evaluate pathogenicity of missense mutations causing hereditary breast cancer. Russian partner has donewhole exome sequencing of 32 non-BRCA high-risk BC patients followed by case-control validation of 2900 individuals. The newly identified candidate genetic variants (LEPREL1 (p.Pro636Ser (G>A); PZP p.Arg680* (G>A); ING1 p.Pro319Leu (C>T); HELLS p.Arg53Cys (C>T); CREB3 p.Lys157Glu; SLIT3 p.Arg154Cys) are being evaluated using CRISPR/Ca9 approach in our laboratory.

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