Table 2.

Summary of mutations detected in AR exon 8 in cfDNA

SampleBase changeAmino acid changeMutant read countWild-type read countTotal read countPercent mutantARDBValidated (MiSeq)
VC-005ChrX:66943600 G>AE893K17011,96912,1481.40Yes
VC-012ChrX:66943606 A>GM895V12716,1677,44717.07PCaYes
VC-015ChrX:66943552 A>GT877A2319,7209,9552.32AIS/PCan/a
VC-017ChrX:66943552 A>GT877A10112,85412,9600.78AIS/PCaNo
VC-022ChrX66943560 C>AD879E1211,16511,1800.11No
VC-023ChrX:66943543 C>TH874Y1212,91712,9290.09PCan/a
VC-040ChrX:66943543 C>TH874Y4887,5708,0586.06PCan/a
VC-041ChrX:66943543 C>TH874Y1,5707,2778,84717.75PCan/a
VC-053ChrX:66943543 C>TH874Y1409,1059,2451.51PCan/a
VC-063ChrX:66943543 C>TH874Y27914,87915,1581.84PCaYes
VC-064ChrX:66943564 C>AL881I1715,69915,7160.11PAISn/a
VC-012 [2nd sample]ChrX:66943543 C>TH874Y4910,36410,4130.47PCaYes
VC-012 [2nd sample]ChrX:66943549 T>CF876L14610,24210,3881.41PCa1Yes
VC-012 [2nd sample]ChrX:66943552 A>GT877A5119,76210,2804.97AIS/PCaYes
VC-012 [2nd sample]ChrX:66943585 A>GS888G1589,1439,3131.70Yes
VC-012 [2nd sample]ChrX:66943606 A>GM895V389,2069,2540.41PCaYes
VC-041 [2nd sample]ChrX:66943543 C>TH874Y474315,68320,42623.22PCan/a

NOTE: ARDB column: The AR mutation database was downloaded from http://androgendb.mcgill.ca/ARDB.xls.

Abbreviations: PCa, a mutation was reported to be present in prostate cancer; AIS, a mutation was reported to be present in Androgen Insensitivity Syndrome; PAIS, a mutation was reported to be present in Partial Androgen Insensitivity Syndrome; AIS/Pca, a mutation was reported to be present both in PCa and in AIS.

Validated (MiSeq) Column: Yes, mutation validated; No, mutation not validated; n/a, validation not performed.