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. 2017 Sep 25;38(12):1621–1648. doi: 10.1002/humu.23337

Table 5.

Summary of CDC73 mutations associated with sporadic parathyroid carcinoma

Mutation a Exon/intron Codon b Predicted effect c Type d Original designation References
c.13C > T Exon 1 5 p.Leu5Phe S 13C > T Guarnieri et al. (2012)
c.14T > C Exon 1 5 p.Leu5Pro S1 c.14T > C Cavaco et al. (2011)
c.16del Exon 1 6 p.Ser6AlafsX15 ND2 16delA Shattuck et al. (2003b)
c.23_25delinsGT Exon 1 8 p.Leu8ArgfsX13 S 23TGCG > GTG Shattuck et al. (2003b)
c.25C > T Exon 1 9 p.Arg9X S R9X Cetani et al. (2004)
c.32del Exon 1 11 p.Tyr11SerfsX10 S3 c.32delA Domingues et al. (2012)e
c.34_35insCT Exon 1 12 p.Asn12ThrfsX10 ND c.34_35insCT Wang et al. (2012)j
c.34_37del Exon 1 12 p.Asn12SerfsX8 S 34‐37 delAACA Enomoto et al. (2010)j
c.40del Exon 1 14 p.Gln14ArgfsX7 S 39delC Shattuck et al. (2003b)
c.42del Exon 1 15 p.Lys15ArgfsX6 S4 c.42delG Guarnieri et al. (2012)
c.60del Exon 1 21 p.Lys21ArgfsX5 S5 c.60delG Cetani et al. (2013)
c.64_73del Exon 1 22 p.Gly22X ND6 60del10 Shattuck et al. (2003b)
c.64G > T Exon 1 22 p.Gly22X S7 c.64G > T Cetani et al. (2013)
c.70G > T Exon 1 24 p.Glu24X S8 70G > T Shattuck et al. (2003b)
c.70G > T Exon 1 24 p.Glu24X S E24X Cetani et al. (2007)
c.70G > T Exon 1 24 p.Glu24X G c.70G > T Serrano‐Gonzalez, Shay, Austin, Maceri and Pitukcheewanont (2016)
c.76del Exon 1 26 p.Ile26SerfsX11 S c.76delA Howell et al. (2003)
c.82_85del Exon 1 28 p.Gly28SerfsX8 S9 82del4 Shattuck et al. (2003b)
c.85del Exon 1 29 p.Glu29SerfsX8 S10 c.85delG Siu et al. (2011)
c.88_94del Exon 1 30 p.Phe30GlyfsX5 S c.88_94delTTCTCCT Frank‐Raue et al. (2011)h (rt)
c.94_95insTA Exon 1 32 p.Trp32LeufsX6 S c.94insTA Guarnieri et al. (2012)
c.128G > A Exon 1 43 p.Trp43X S c.128G > A Haven et al. (2007)f
c.162C > G Exon 2 54 p.Tyr54X S c.162C > G (Y54X) Howell et al. (2003)
c.162C > G Exon 2 54 p.Tyr54X S11 162C > G Shattuck et al. (2003b)
c.162C > G Exon 2 54 p.Tyr54X ND c.162C > G Wang et al. (2012)
c.162C > A Exon 2 54 p.Tyr54X S12 c.162C > A Cavaco et al. (2011)g
c.165C > A Exon 2 55 p.Tyr55X S13 c.165C > A Howell et al. (2003)
c.165del Exon 2 55 p.Tyr55X S c.165delC Howell et al. (2003)
c.165del Exon 2 55 p.Tyr55X S c.165delC Haven et al. (2007)f
c.176C > T Exon 2 59 p.Ser59Phe G c.176C > T Haven et al. (2007)f
c.182T > A Exon 2 61 p.Leu61X S 182T > A Cetani et al. (2007)
c.195dup Exon 2 66 p.Asn66X S 195insT Cetani et al. (2004)
c.197dup Exon 2 66 p.Asn66LysfsX16 S 195insA Cetani et al. (2004)
c.226C > T Exon 2 76 p.Arg76X S c.226C > T Shattuck et al. (2003b)
c.226C > T Exon 2 76 p.Arg76X G1 c.226C > T Cavaco et al. (2011)
c.226C > T Exon 2 76 p.Arg76X G10 c.226C > T Siu et al. (2011)
c.249del Exon 3 84 p.Pro84LeufsX25 S5 c.248delT Cetani et al. (2013)
c.260_261del Exon 3 87 p.Arg87LysfsX3 G c.260_261delGA Wang et al. (2012)
c.343G > T Exon 4 115 p.Glu115X G E115X Cetani et al. (2013)
c.343G > T Exon 4 115 p.Glu115X G7 E115X Cetani et al. (2013)
c.375dup Exon 5 126 p.Arg126ThrfsX5 G 373insA Shattuck et al. (2003b)
c.415C > T Exon 5 139 p.Arg139X G 415C > T Cetani et al. (2007)
c.415C > T Exon 5 139 p.Arg139X G c.415C > T exon 5 Bricaire et al. (2013)j , h (ut?,rt?,jt?)
c.513‐1del Intron 6 splice [a]i S13 IVS6‐1delG Howell et al. (2003)
c.520_523del Exon 7 174 p.Ser174LysfsX27 G12 c.518_521delTGTC Cavaco et al. (2011)g
c.544dup Exon 7 182 p.Ile182AsnfsX11 G c.539_544insA, p.Ile182AsnfsX10 Yu et al. (2015)
c.626_629del Exon 7 209 p.Lys209ArgfsX9 G c.626_629delAACA Wang et al. (2012)h(rt)
c.664C > T Exon 7 222 p.Arg222X G 664C > T Shattuck et al. (2003b)
c.664C > T Exon 7 222 p.Arg222X G c.664C > T exon 7 Bricaire et al. (2013)h (rt)
c.679_680insAG Exon 7 227 p.Arg227LysfsX31 G11 679insAG Shattuck et al. (2003b)
c.685_688del Exon 7 229 p.Arg229TyrfsX27 G c.679_682delAGAG Corbetta et al. (2010)
c.687_688del Exon 7 229 p.Arg229SerfsX37 S c.679_680delAG Corbetta et al. (2010)
c.687_688del Exon 7 229 p.Arg229SerfsX37 G4 c.679_680delAG Guarnieri et al. (2012)
c.687_688del Exon 7 229 p.Arg229SerfsX37 G c.687_688delAG Wang et al. (2012)
c.687_688del Exon 7 229 p.Arg229SerfsX37 G c.687_688delAG Witteveen et al. (2011)f
c.691dup Exon 7 231 p.Trp231LeufsX36 G c.692_693insT Haven et al. (2007)f
c.693dup Exon 7 232 p.Arg232GlufsX35 ND c.693_694insG Haven et al. (2007)
c.700C > T Exon 7 234 p.Arg234X ND6 700C > T Shattuck et al. (2003b)
c.700C > T Exon 7 234 p.Arg234X G R234X Cetani et al. (2004)
c.700C > T Exon 7 234 p.Arg234X G 234 CGA to TGA Enomoto et al. (2010)
c.736del Exon 8 246 p.Ser246ProfsX11 S9 732delT Shattuck et al. (2003b)
c.750del Exon 8 250 p.Phe250LeufsX7 S8 746delT Shattuck et al. (2003b)
c.1231del Exon 14 411 p.Gln411ArgfsX17 ND2 1230delC Shattuck et al. (2003b)
Gross deletion G Whole gene deletion Bricaire et al. (2013)h(ut)
Gross deletion G Whole gene deletion Caron et al. (2011)
Gross deletion G3 Whole gene deletion Domingues et al. (2012)e
a

Mutations are numbered in relation to the cell division cycle 73 (CDC73) cDNA reference sequence (GenBank accession number NM_024529.4) whereby nucleotide +1 corresponds to the A of the ATG‐translation initiation codon. All mutations were analyzed using the Leiden Open Variation Database (LOVD) Mutalyzer sequence variant nomenclature checker (https://www.lovd.nl/mutalyzer/) and annotated using the Human Genome Variation Society (HGVS) guidelines (https://www.hgvs.org/).

b

Codon numbering starts from initiation codon of CDC73 mRNA.

c

Predicted effect: splice, splice site mutation; [d] donor splice site; [a] acceptor splice site.

d

Mutation type: G, germline; S, somatic; ND, not defined. Equal superscript numbers represent germline and/or somatic mutations occurring in the same patient.

e

Initially reported as a benign parathyroid adenoma, but later reclassified as PC by Yu et al. (2015).

f

In a posterior publication, most of this cohort was updated by Witteveen et al. (2011).

g

PC diagnosis disputable since: the tumor recurrence occurred with several cervical nodules of parathyroid tissue (fibrous septae, with low pleomorphism and high proliferative activity); however, during the first surgery, where a typical parathyroid adenoma was removed, the capsule was ruptured, thus raising the possibility of local seeding.

h

Presence in the affected patient of: rt renal cysts/lesions, and/or ut uterine tumors (if the presence of renal cysts or uterine tumors was unknown, one “?” was added next to the previous superscripts; hjt? was added if the absence of jaw tumors was unknown).

i

For detailed information of the effect of CDC73 mutation on splicing please consult Hahn et al. (2009).

j

Criteria for diagnosis of PC not reported.

PC, parathyroid carcinoma.