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. Author manuscript; available in PMC: 2014 Mar 1.
Published in final edited form as: Mutat Res. 2013 Jan 17;0:78–88. doi: 10.1016/j.mrfmmm.2013.01.001

Table 1. Somatic mutations of HNSCC patient tumors in a select subset of FA- and DNA-repair associated genes.

[136] Each letter in parentheses represent each individual patient. Mutations were identified by exome sequencing of tumors isolated from sporadic head and neck squamous cell carcinoma patients [136].

FA-Associated Genes Description Mutation Types Amino Acid Change
ATM ataxia telangiectasia mutated isoform 1 Missense p.I2899M
Missense p.S974F (a)

ATR ataxia telangiectasia and Rad3 related protein Nonsense p.W1784* (b)
Missense p.S1701F (b)
Missense p.E1840Q (c)
Missense p.A248S (c)

BRCA1 breast cancer 1, early onset isoform 2 Missense p.E554G
Missense p.R1670K (d)
Missense p.V627I (d)

BRCA2 breast cancer 2, early onset Nonsense p.Y2884*
Missense p.A1411T
Missense p.E97V (e)
Splice_Site (f)
Missense p.K1530E

BLM Bloom syndrome protein Missense p.D294N (g)

ERCC5 XPG-complementing protein Missense p.Q1002R (a)

ERCC6 excision repair cross-complementing rodent Missense p.R928T (h)

ERCC8 excision repair cross-complementing rodent Missense p.D371H (f)

FANCC Fanconi anemia, complementation group C Missense p.T319R (b)

FANCI Fanconi anemia, complementation group I isoform Missense p.C558F

FANCM Fanconi anemia, complementation group M Missense p.I633M (i)
Missense p.V1951E (a)
Missense p.H2016D (j)
Missense p.S981L (k)
Nonsense p.Q1701*

RAD50 RAD50 homolog isoform 1 Missense p.E1106Q (e)

RAD51AP1 RAD51 associated protein 1 isoform a Missense p.S263C

RAD51AP2 RAD51 associated protein 2 Nonsense p.Q5* (d)
Missense p.S355R

RAD51C RAD51 homolog C isoform 1 Missense p.M118I (i)
Missense p.Q340K (m)

RAD51L1 RAD51-like 1 isoform 2 Missense p.E167K (g)

RAD52 RAD52 homolog Missense p.G59R (n)

RAD54B RAD54 homolog B Missense p.L428V (i)

RAD9B RAD9 homolog B Frame_Shift p.V412fs (h)

RADIL Rap GTPase interactor Missense p.P249R (o)

REV1 REV1-like isoform 1 Missense p.R874W (p)
RMI1 RMI1, RecQ mediated genome instability 1, Missense p.E617D (m)

UBE2E2 ubiquitin-conjugating enzyme E2E 2 Missense p.S46F (h)
Missense p.D22H (g)

UBE2I ubiquitin-conjugating enzyme E2I Missense p.W103C (i)

UBE2J2 ubiquitin conjugating enzyme E2, J2 isoform 1 Missense p.I113F (j)

UBE2NL ubiquitin-conjugating enzyme E2N-like Nonsense p.K95* (r)

UBE2Q1 ubiquitin-conjugating enzyme E2Q Missense p.M206I (k)

UBE3A ubiquitin protein ligase E3A isoform 2 Missense p.K489E (a)
Missense p.S166R

UBE4A ubiquitination factor E4A Missense p.E616K
Missense p.E822D (i)
Missense p.E827K (i)
Missense p.L605V

UBE4B ubiquitination factor E4B isoform 1 Nonsense p.E114* (o)

USP12 ubiquitin thiolesterase 12 Missense p.A341E (j)

USP13 ubiquitin thiolesterase 13 Missense p.A561T (s)
Missense p.P729L (d)

USP19 ubiquitin thioesterase 19 Nonsense p.Y941*

USP40 ubiquitin thioesterase 40 Nonsense p.G641* (o)

USP44 ubiquitin thiolesterase 44 Missense p.E226Q (n)
Missense p.E167Q (n)
Missense p.S64T (n)

USP7 ubiquitin specific peptidase 7 Missense p.M1070V

USP8 ubiquitin specific peptidase 8 Missense p.D359H (f)
Missense p.V736I

USP29 ubiquitin specific peptidase 29 Missense p.T584N (r)

USP36 ubiquitin specific peptidase 36 Missense p.I191M (k)

USP45 ubiquitin specific peptidase 45 Missense p.K180R (t)

USP17L2 deubiquitinating enzyme 3 Missense p.Q430E (k)

USP4 ubiquitin specific protease 4 isoform a Missense p.R179P (f)
Missense p.R40Q (f)

USP24 ubiquitin specific protease 24 Missense p.Y343H (c)

USP26 ubiquitin-specific protease 26 Missense p.K734N
Missense p.V906L (p)

USP28 ubiquitin specific protease 28 Missense p.E371Q (k)

USP35 ubiquitin specific protease 35 Missense p.E55K (k)

USP43 ubiquitin specific protease 43 Missense p.S455F
Missense p.R206Q (k)
Missense p.E834V (t)

USP47 ubiquitin specific protease 47 Missense p.I1263V

USP51 ubiquitin specific protease 51 Missense p.F624L (j)

USP9X ubiquitin specific protease 9, X-linked isoform Missense p.P1105L (s)
Missense p.W512L (p)

USP9Y ubiquitin specific protease 9, Y-linked Missense p.I226F

WDR48 WD repeat domain 48 Splice_Site (i)