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Table 2 Sixteen samples with incidental pathogenic/likely pathogenic variants found, in addition to known variants (previously confirmed)

From: Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing

Patient Expected variant (previously confirmed) Incidental pathogenic variants found
PT179 APC p.I1307K (c.3920 T > A) CHEK2 p.S428F (c.1283C > T), BRCA1 p.E23fs (c.68_69delAG)
PT219 SMAD4 p.L414fs (c.1242_1245delAGAC) MUTYH p.Y179C (c.536A > G), VHL p.E52* (c.154G > T)
PT78 BRCA1 (c.301 + 1G > A) BRCA2 p.S1982fs (c.5946delT)
PT58 BRCA1 Intragenic deletion exons 14 to 20 ATM p.V2497fs (c.7489_7490insTT)
PT57 BRCA2 p.D1898C (c.5692_5693delinsTG) TP53 p.T123fs (c.368_369delCT)
PT151 CDH1 p.I363fs (c.1089_1090insACAGTCACTGACACCA) CHEK2 p.T367fs (c.1100delC)
PT119 MLH1 Intragenic deletion exons 1-15 CHEK2 p.S428F (c.1283C > T)
PT187 MLH1 p.E331fs (c.992delA) APC p.I1307K (c.3920 T > A)
PT23 MLH1 p.S388fs (c.1163_1164delCC) NF2 p.R568fs (c.1702_1703delAG)
PT100 MLH1 p.Y548fs (c.1642_1648delTACCTTC) TSC2 p.1684_1690del (c.5051_5068del)
PT141 MSH2 p.A636P (c.1906G > C) JAK2 p.R761fs (c.2281_2282delAG)
PT212 MSH6 p.N1327fs (c.3980_3981insTCAG) APC p.I1307K (c.3920 T > A)
PT145 MUTYH (c.892-2A > G) RUNX1 p.K152fs (c.455dupA)
PT33 TP53 p.R342* (c.1024C > T) BRIP1 p.N590fs (c.1770delC)
PT90 MLH1 p.A441T (c.1321G > A) TSC2 p.1684_1690del (c.5051_5068del)
PT106 MLH1 p.T117R (c.350C > G) APC p.I1307K (c.3920 T > A)
  1. All detected mutations are heterozygous