Which genes are analyzed?

Color carefully selected our 30-gene panel based on scientific studies showing strong association with risk of the most common types of hereditary cancer. In certain genes, only specific positions known to impact cancer risk are analyzed. Color results reports include references to relevant literature and appropriate medical guidelines as available.

The 30 genes on Color’s panel are: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4*, CDKN2A(p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM*, GREM1*, MITF*, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2**, POLD1*, POLE*, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53

* Only positions known to impact cancer risk analyzed: CDK4: only chr12:g.58145429-58145431 (codon 24) analyzed, EPCAM: only large deletions and duplications including 3’ end of the gene analyzed, GREM1: only duplications in the upstream regulatory region analyzed, MITF: only chr3:g.70014091 (including c.952G>A) analyzed, POLD1: only chr19:g.50909713 (including c.1433G>A) analyzed, POLE: only chr12:g.133250250 (including c.1270C>G) analyzed.
** PMS2: Exons 12-15 not analyzed.

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