OneInFourty & Yodeah Present: Population Based Testing For Cancer Susceptibility Genes

November 12, 2020
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THE MOST RELEVANT GENES FOR COMMON HEREDITARY CANCERS

* CDK4: analysis is limited to chr12:g.58145429-58145431 (codon 24). EPCAM: analysis is limited to deletions that minimally encompass the 3′ end of the gene including exons 8 and/or 9. GREM1: analysis is limited to duplications that overlap the upstream regulatory region. MITF: analysis is limited to chr3:g.70014091 (including c.952G>A). MUTYH: single heterozygous pathogenic variants, likely pathogenic variants, and variants of uncertain significance are not reported. PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del). POLD1: analysis is limited to chr19:g.50909713 (including c.1433G>A). POLE: analysis is limited to chr12:g.133250250 (including c.1270C>G).
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