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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