Table 1.

mtDNA mutations in oncocytic samples

SampleDiagnosisBase changeAmino acid changeGeneHet., %% SequencedPSICDatabase
HCT26OCA 3571insC 101X ND1 100Mitomap
HCT16OCAp 3331del242bp Frameshift ND1 70100Novel
HCT21OHTN 3571insC 101X ND1 9898.2Mitomap
HCT4OHTN G5185A W239X ND2 98Novel
HCT33OCA G4720A W84X ND2 100Novel
HCT27OCA 11084delCA 113X ND4 100Novel
HCT28OCA 11038delA 99X ND4 100Mitomap
HCT42OCA 10885delT 61X ND4 35100Novel
HCT38OFA G11403A W215X ND4 100Novel
HCT1OHTN G13414A G360X ND5 29100Novel
HCT7OHTN A13870T K512X ND5 25100Novel
HCT29OCA 13235insT 311X ND5 99Novel
HCT1OHTNT13271CL312P ND5 1002.637Novel
HCT40OFAG13042AA236T ND5 +1002.111HmtDB
HCT23OHTNG10537AG35E ND4L 99.22.213Novel
HCT25OHTNG12056AE433K ND4 99.52.101Novel
HCT36OCApG11475AG239D ND4 1002.436Novel
HCT9OHTNT11613CL285P ND4 1002.568Novel
HCT18OCApG4975AG169E ND2 1002.696Novel
HCT28OCAG4831AG121D ND2 1002.514Novel
HCT37OCApT3949CY215H ND1 1002.428Mitomap
HCT39OCAG3392AG29D ND1 1002.254Novel
HCT43OFAT4222CS306P ND1 1002.020Novel
HCT44OFAT12797CL154P ND5 1002.932Novel
A8836GM104V ATP6 2.376Mitomap
HCT30OFAT15209CY155H CYTB 98.81.984Novel
HCT6OFAT15674CS310P CYTB 1001.899HmtDB
HCT26OCAA8836GM104V ATP6 1002.376Mitomap
HCT5OHTNG4148AR281H ND1 1002.398Novel
HCT31OCApG8839AA105T ATP6 98.71.851HmtDB
BRCA13BRduct 3331del242bp Frameshift ND1 20100Novel
BRCA14BRductT15843CM366T CYTB +1002.458Novel
BRCA17BRductT15813GV356G CYTB 1001.806Novel
  • Het., heteroplasmy (% of mutated); OCA, oncocytic thyroid carcinoma; OCAp, oncocytic thyroid carcinoma with papillary festures; OFA, onocytic follicular thyroid adenoma; OHTN, oncocytic hyperplastic thyroid module; BRduct, invasive ductal carcirnoma of the breast. Bold indicates disruptive mutations.