Whole Exome Sequenced Characteristics
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1 Supplementary Tables Supplementary Table 1: Patient characteristics of 45 whole exome sequenced HNSCC tumors Whole Exome Sequenced Characteristics Tumors (n=45) Age, years Median (range) 61.0 (19-90) Sex, N (%) Men % Women % Tumor Type, N (%) Primary % Recurrent 0 0.0% Clinical Disease Stage, N (%) I 1 2.2% II % III % IV % Tumor Site, N (%) Oral Cavity % Oropharynx 3 6.7% Hypopharynx 3 * 6.7% Larynx % Nasal Cavity 1* 2.2% Tumor Grade, N (%) Well Differentiated 1 2.2% Moderately Differentiated % Poorly Differentiated % Not evaluated 1 2.2% * 2 patients with lesions at multiple sites. Supplementary Table 1: Describes the clinical characteristics of the 45 new tumors analyzed in our cohort.
2 Supplementary Table 2A: Mutational events of PI3K pathway components in HNSCC tumors. PI3K Pathway Component Ref. GenBank Seq. Tumor Mutation Type Genomic Change Allele Change Amino Acid Change PIK3CA NM_ HN_62415 Missense g.chr3: a>g c.1791a>g p.e545g HN_62426 Missense g.chr3: g>a c.1790g>a p.e545k HN_62469 Missense g.chr3: a>g c.3297a>g p.h1047r HN_62825 Missense g.chr3: g>t c.501g>t p.r115l HN_63027 Missense g.chr3: g>a c.1781g>a p.e542k HN_63039 Missense g.chr3: a>t c.3297a>t p.h1047l 325 Missense g.chr3: a>t c.3297t>a p.h1047l HN11PT Missense g.chr3: a>g c.3140a>g p.h1047r HN41PT Missense g.chr3: a>t c.3140a>t p.h1047l HNPTS_1 Missense g.chr3: g>a c.1633g>a p.e545k HNPTS_14 Missense g.chr3: g>c c.1088g>c p.g363a HNPTS_20 Missense g.chr3: t>c c.2911t>c p.c971r HNPTS_25 Missense g.chr3: a>g c.3140a>g p.h1047r HNPTS_26 Missense g.chr3: a>t c.2925a>t p.r975s HNPTS_29 Missense g.chr3: g>a c.1624g>a p.e542k HNPTS_35 Missense g.chr3: g>a c.1624g>a p.e542k HNPTS_38 Missense g.chr3: a>g c.3140a>g p.h1047r HNPTS_42 Missense g.chr3: g>a c.1633g>a p.e545k HNPTS_45 Missense g.chr3: a>g c.3140a>g p.h1047r PIK3CG NM_ HN_01000 Missense g.chr7: c>a c.3146c>a p.r1021s HN_62532 Missense g.chr7: t>a c.2613t>a p.l843h HN_62854 Missense g.chr7: c>t c.1422c>t p.s446f HN_63021 Missense g.chr7: c>t c.1661c>t p.p526s HN22PT Missense g.chr7: g>a c.1472g>a p.g491e HNPTS_42 Missense g.chr7: c>t c.467c>t p.a156v PTEN NM_ HN_00190 Missense g.chr10: c>g c.1307c>g p.d92e HN_62652 Splice_Site_SNP g.chr10: g>a c.e7_splice_site HN_62741 Missense g.chr10: g>t c.1785g>t p.d252y HN_62863 Missense g.chr10: c>t c.1768c>t p.p246l HN_63039 Nonsense g.chr10: c>t c.2034c>t p.r335* HNPTS_1 Missense g.chr10: g>t c.42g>t p.r14s PIK3R5 NM_ HNPTS_16 Missense g.chr17: g>a c.1022c>t p.a341v HNPTS_22 Missense g.chr17: t>c c.374a>g p.e125g HNPTS_29 Missense g.chr17: c>t c.964g>a p.e322k HNPTS_38 Nonsense g.chr17: c>a c.178g>t p.e60* PIK3AP1 NM_ HN_62506 Missense g.chr10: g>t c.535c>a p.a136d 91 Missense g.chr10: c>t c.1433g>a p.r478q 266 Missense g.chr10: g>c c.1055c>g p.t352s HN22PT Missense g.chr10: c>g c.937g>c p.g313r PIK3R1 NM_ HN_00361 In_frame_Ins g.chr5: _ insata c.1914_1915insata p.453_454insn HN_62338 Missense g.chr5: a>g c.1428a>g p.i290v HN_62421 Missense g.chr5: g>c c.2238g>c p.d560h HNPTS_6 Nonsense g.chr5: _ ga>ct c.1776_1777ga>ct p.592_593kk>n* PIK3C2G NM_ HN_00190 Missense g.chr12: g>t c.2044g>t p.v656l HNPTS_23 Frame_Shift_Ins g.chr12: _ inst c.186_187inst p.t62fs HNPTS_29 Missense g.chr12: c>t c.3815c>t p.s1272l MTOR NM_ HN_62421 Missense g.chr1: a>t c.6900t>a p.l2260h HN_62469 Missense g.chr1: c>t c.3603g>a p.r1161q PIK3C2A NM_ HN_62699 Splice_Site_SNP g.chr11: c>t c.e6_splice_site PIK3C2B NM_ HN_62739 Missense g.chr1: g>a c.2169c>t p.r564c PIK3CD NM_ HN_62672 Missense g.chr1: a>t c.1475a>t p.t423s PIK3R6 NM_ HN_62860 Missense g.chr17: c>t c.1688g>a p.r483h PIK3IP1 NM_ HNPTS_1 Missense g.chr22: c>a c.430g>t p.a144s AKT2 NM_ HNPTS_45 Missense g.chr19: t>c c.1052a>g p.y351c TSC1 NM_ HN_00761 Nonsense g.chr9: g>a c.967c>t p.r245* TSC2 NM_ HNPTS_42 Nonsense g.chr16: c>g c.4541c>g p.s1514* RICTOR NM_ HNPTS_18 Nonsense g.chr5: c>a c.4897g>t p.e1633* HNPTS_27 Missense g.chr5: c>g c.523g>c p.d175h. RPTOR NM_ HNPTS_17 Missense g.chr17: c>t c.1220c>t p.p407l
3 Supplementary Table 2B: Mutational events of MAPK pathway components in HNSCC tumors. MAPK Pathway Component Ref. GenBank Seq. Tumor Mutation Type Genomic Change Allele Change Amino Acid Change HRAS NM_ HN_00466 Missense g.chr11:533875g>t c.369c>a p.q61k NM_ HN_62469 Missense g.chr11:534285c>a c.226g>t p.g13v NM_ HN_62863 Missense g.chr11:534288c>g c.223g>c p.g12a NM_ HN_63080 Missense g.chr11:534288c>t c.223g>a p.g12d NM_ HN11PT Missense g.chr11:523874t>a c.182a>t p.q61l HN12PT Missense g.chr11:524286c>g c.37g>c p.g13r 166 Missense g.chr11:524288c>t c.35g>a p.g12d KRAS NM_ HN_62421 Missense g.chr12: c>g c.622g>c p.k147n NM_ HNPTS_23 Missense g.chr12: t>c c.472a>g p.t158a RAF1 NM_ Missense g.chr3: g>c c.1837c>g p.l613v SHC2 NM_ HNPTS_26 Missense g.chr19:436383t>c c.823a>g p.r275g SHC3 NM_ HNPTS_4 Missense g.chr9: c>a c.1329g>t p.e443d Supplementary Table 2C: Mutational events of the JAK/STAT pathway components in HNSCC tumors. JAK/STAT Pathway Component Ref. GenBank Seq. Tumor Mutation Type Genomic Change Allele Change Amino Acid Change JAK1 NM_ HNPTS_14 Missense g.chr1: t>a c.620a>t p.q207l HNPTS_18 Missense g.chr1: c>g c.2572g>c p.e858q JAK2 NM_ HNPTS_17 Missense g.chr9: g>a c.728g>a p.c243y JAK3 NM_ HNPTS_20 Missense g.chr19: t>a c.1520a>t p.q507l HN_62376 Nonsense g.chr19: g>a c.137c>t p.q13* HN_63080 Missense g.chr19: g>a c.2942c>t p.r948c HN33PT Missense g.chr19: a>t c.1150t>a p.f384i STAT1 NM_ HN_63080 Missense g.chr2: g>t c.1376c>a p.q330k NM_ Missense g.chr2: c>t c.2113g>a p.e705k STAT3 NM_ HN_01000 Missense g.chr17: c>g c.429g>c p.e63d STAT5B NM_ HN_62338 Missense g.chr17: t>a c.599a>t p.i144f IL6ST NM_ HN_62415 Missense g.chr5: t>a c.2009a>t p.d585v HN_62469 Missense g.chr5: g>a c.1526c>t p.t424i HNPTS_21 Missense g.chr5: c>a c.1371g>t p.w457c IL6R NM_ HNPTS_1 Missense g.chr1: g>c c.1130g>c p.g377a Supplementary Tables 2A-2C: Describe the mutations observed in the defined mitogenic pathways, as observed in our cohort.
4 Supplementary Table 2D: Average mutation rate of the PI3K, MAPK and JAK/STAT pathways in the HNSCC cohort (N=151). Mutated Pathways Gene Length covered (bases) Total No. of Mutations Average Mutation Rate per Targeted Base (x10 6 ) P-value (vs. Background HNSCC mutation rate # ) PI3K Pathway MAPK Pathway JAK/STAT Pathway Supplementary Table 2E: Average mutation rate of mutated genes in the PI3K, MAPK and JAK/STAT pathways in the HNSCC cohort (N=151). Mutated Components Genes Gene Length covered (bases) Total No. of Mutations Average Mutation Rate per Targeted Base (x10 6 ) P-value (vs. Background HNSCC mutation rate # ) PI3K Pathway PIK3CA < PIK3CG PTEN PIK3R PIK3AP PIK3R PIK3C2G MTOR PIK3C2A PIK3C2B PIK3CD PIK3R PIK3IP AKT TSC TSC RICTOR RPTOR MAPK Pathway HRAS KRAS RAF SHC SHC JAK/STAT Pathway JAK JAK JAK STAT STAT STAT5B IL6ST IL6R # P value was calculated by comparing the average mutation rate of each pathway gene in this cohort to the background mutation rate per targeted base for all genes in the COSMIC database for upper-aerodigestive tract cancers. Supplementary Tables 2D-2E: Demonstrate the statistical significance of the mutation rates observed in the defined mitogenic pathways, and individual genes compared to HNSCC background mutation rates, normalized to bases covered by exome sequencing in our cohort.
5 Supplementary Table 3: Demonstrates the correlation between PI3K mutant status and mutations in other cancer genes as defined by COSMIC, and the respective statistical significance of each correlation.
6 Supplementary Table 4: PI3K pathway mutations of HPV-positive HNSCC tumors. HPV-Positive HNSCC Tumors PI3K Pathway Mutation HN_00361 * PIK3R1 (453_454insN) HN_00466 HN_62318 HN_62740 HN_62825 PIK3CA (R115L) HN_63027 * PIK3CA (E542K) HN_63115 HN_62810 HN_00338 HN_62374 HN_62426 PIK3CA (E545K) HN19PT HN20PT HN41PT * PIK3CA (H1047L) HN42PT * denotes tumors with PI3K pathway mutations as the only cancer gene mutations. Supplementary Table 4: Describes the PI3K mutational status of HPV+ tumors in our cohort.
7 Supplementary Table 5: Distribution of PIK3CA mutations in multiple cancers. PIK3CA Domain Mutations Cancer Types ABD RBD C2 Helical Kinase HNSCC (n=151)* 1/19 (5.26%) 0/19 (0%) 1/19 (5.26%) 7/19 (36.84%) 10/19 (52.63%) LUNG SCC (n=179)** 5/31 (16.13%) 1 4/31 (12.90%) 16/31 (51.61%) 6/31 (19.35%) CERVICAL SCC (n=35) 0/9 0/9 1/9 (11.11%) 5/9 (55.56%) 3/9 OVARIAN SEROUS CYSTADECARCIMA (n=440) ENDOMETRIOID CARCIMA (n=240)*** 49/164 (29.88%) 2/164 (1.22%) 26/164 (15.85%) 43/164 (26.22%) 43/164 (26.22%) BREAST INVASIVE CARCIMA (n=482) 11/190 (5.79%) 0/190 20/190 (10.53%) 67/190 (35.26%) 92/190 (48.42%) PROSTATE ADECARCIMA (n=82) 0/2 0/2 1/2 (50.00%) 1/2 (50.00%) 0/2 KIDNEY RENAL CLEAR CELL CARCIMA (n=43) 2/10 (20.00%) 0/10 0/10 4/10 (40.00%) 3/10 (30.00%) STOMACH ADECARCIMA (n=132) 5/33 (15.15%) 3 (3.03%) 6/33 (18.18%) 14/33 (42.42%) 7/33 (21.21%) GLIOBLASTOMA MULTIFORME (n=283) 11/27 (40.74%) 0/27 4/27 (14.81%) 7/27 (25.93%) 5/27 (18.52%) LUNG ADECARCIMA (n=172) 3/11 (27.27%) 0/11 2/11 (18.18%) 5/11 (45.45%) 1/11 (9.09%) COLON AND RECTAL ADECARCIMA (n=212) 6/51 (11.76%) 1/51 (1.96%) 12/51 (23.53%) 19/51 (37.25%) 13/51 (25.49%) BLADDER UROTHELIAL CARCIMA (n=25) 2/3 (66.67%) Footnotes: Domains are defined as in Figure 3A. Mutations closest to nearby domains *AA 115, 169, 498; **AA 118, 320, 495; ***AA 110(n=3), 111(n=4), 113, 115, 118(n=5), 170, 495, 522; 1 splice site unclassified; c.383, AA 109, 110, 111(n=2), 118(n=2), 512 ; 1 mutation unclassified; AA 111, 179, 512; AA 111. Total PIK3CA mutations in each cancer type are represented in the denominator for each cancer type. Data extracted from cbio portal. Supplementary Table 5: Describes the distribution of PIK3CA mutations across cancer types.
Supplementary Table 2. Identified causative mutations and/or mutation candidates.
Supplementary Table 2. Identified causative mutations and/or mutation candidates. Nonsense mutations base change aa change Average depth Result of next generation in 432 patient Hereditary form of the
July 2015 Assay ID Assay Name Gene COSMIC ID Amino acid change Nucleotide change Wild type allele (VIC label) Mutant allele (FAM label)
July 2015 Assay ID Assay Name Gene COSMIC ID Amino acid change Nucleotide change Wild type allele (VIC label) Mutant allele (FAM label) p AHLJ090 AKT1_33765 AKT1 33765 p.e17k c.49g>a C T 2 AHBKFRM BRAF_473
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