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. 2016 Nov 1;6(11):2611–2630.

Table 3.

Description of shared coding mutations identified in matched bilateral tumors and in peripheral blood samples (tissue panel)

Sample id Gene Mutation location Coding Protein Function MUT allele freq blood MUT allele freq T1 MUT allele freq T2 COSMIC for the present mutation
BIL-006 FGFR3 T1, T2 c.1345C>T p.Pro449Ser Missense 0.52 0.5 Not registered
BIL-013*,$ TP53 T1, T2 c.818G>C p.Arg273Pro Missense 0.35 0.76** COSM165077
BIL-017 PIK3CA T1, T2 c.3140A>G p.His1047Arg Missense 0.3 0.22 COSM94986
BIL-028 ERBB2 T1, T2 c.2909G>A p.Arg970Gln Missense 0.63 0.55 Not registered
BIL-033 NOTCH1 T1, T2 c.6106G>A p.Ala2036Thr Missense 0.23 0.28 COSMIC: p.A2036V
BIL-035 MAP3K1 T1, T2 c.2012C>T p.Ala671Val Missense 0.41 0.48 COSM3674469
BIL-042*,$ TP53 BL, T1, T2 c.1021T>G p.Phe341Val^ Missense 0.51 0.58 0.84** Not registered, p.R342*; p.R342P
BIL-062 TP53 T1, T2 c.6061G>A p.Val2021Ile Missense 0.43 0.4 Not registered
BIL-064 MLL3 T1, T2 c.14732A>G p.Asn4911Ser Missense 0.51 0.64 Not registered
BIL-067$ TP53 T1, T2 c.856_857delGA p.Glu286fs Frameshift/Deletion 0.26 0.31 Not registered
BIL-020 FOXM1 BL c.490C>T p.Arg164Trp Missense 0.47 COSM1476487
BIL-020 APOBEC3B BL c.568A>G p.Arg190Gly Missense 0.52 Not registered
BIL-048 EGFR BL^^ c.3244A>T p.Ile1082Leu Missense 0.49 Not registered
^

shared TP53 mutation in blood (BL) and in both tumors (T1, T2).

*

metachronous cases, one with common blood/tumor TP53 mutation.

$

cases with germline mutations found upon testing for cancer predisposing genes.

**

increased VAF indicating loss of the wild-type allele in the metachronous tumor.

^^

non-informative amplicons and positions in the tumors of this case.