Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1

Table 1 Somatic mutations of TNK2 , and DDR1 identified among 112 primary ECs

Gene	Tumor ID	Histology and grade (G)	Nucleotide change	Amino acid change	In silico functional predictions
Gene	Tumor ID	Histology and grade (G)	Nucleotide change	Amino acid change	Mutation assessor	SIFT	Polyphen v2
TNK2	T3^a,b	Serous	c.C1887_1888ins C	p.P633Afs*3	-	-	-
	T3^a,b	Serous	c.G1714A	p.D572N	Low	Affects function	Probably damaging
	T15^a	Mixed	c.G415A	p.V139M	Low	Affects function	Possibly damaging
	T77^c	Clear cell	c.C2545T	p.R849W	Low	Affects function	Probably damaging
	T88^c	Endometrioid (G1)	c.G767A	p.R256H	High	Affects function	Probably damaging
	T88^c	Endometrioid (G1)	c.G126T	p.K42N	Medium	Tolerated	Probably damaging
	T117^c	Endometrioid (G1)	c.2276 del C	p.P761Rfs*72	-	-	-
	T131	Endometrioid (G3)	c.2276 del C	p.P761Rfs*72	-	-	-
DDR1	T3^a,b	Serous	c.C1720A	p.R574S	Low	Tolerated	Benign
	T79	Serous	c.G1709A	p.R570Q	Low	Affects function	Probably damaging
	T117^c	Endometrioid (G1)	c.2216delA	p.N740Ifs*10	-	-	-

Transcript accession numbers: TNK2 (Ensembl ID ENST00000392400), DDR1 (Ensembl ID ENST00000454612). Protein accession numbers: TNK2 (CCDS33928), DDR1 (CCDS4690). G: Grade.
^aCase no. T3 is also known as OM-1323, T15 is also known as OM-1529.
^b POLE-mutated.
^cMSI-positive tumors, as reported previously [19].
*Denotes the position of a new stop codon introduced by the corresponding frameshift (fs) mutation.

ISSN: 1471-2407