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. 2019 May 8;9:7083. doi: 10.1038/s41598-019-43646-0

Table 1.

Uncommon mutational profiles found in our study and tumor features.

# Primary tumor localization Tumor lesion analyzed Histological type Gene Exon Nucleotidic variation Protein variatio COSMIC ID.a Significance Coverage MAF (%)d
#1 Left colon junction Primary Lieberkuhnian adenocarcinoma KRAS 2 c.34G > A p.(Gly12Ser) COSM517 Missense 2623 32.0
NRAS 3 c.181C > A p.(Gln61Lys) COSM580 Missense 4133 14.4
#2 Sigmoid Colon Primary Mucinous carcinoma KRAS 2 c.34G > A p.(Gly12Ser) COSM517 Missense 3412 25.4
NRAS 2 c.38G > T p.(Gly13Val) COSM574 Missense 3009 12.3
#3 Right colon Primary Ductal carcinoma KRAS 2 c.37G > T p.(Gly13Cys) COSM527 Missense 2694 57.9
#4 Sigmoid colon Primary Lieberkuhnian adenocarcinoma KRAS 2 c.37G > T p.(Gly13Cys) COSM527 Missense 800 30.6
#5 Colon Metastasis (liver) Lieberkuhnian adenocarcinoma KRAS 2 c.24A > G p.(Val8Val) COSM1360891 Silent mutation 1117 70.6
#6 Sigmoid colon Primary Adenocarcinoma NRAS 4 c.360G > A p.(Leu120Leu) Not described* Silent mutation 907 40.6
#7 Right colon Primary Lieberkuhnian adenocarcinoma KRAS 4 c.360G > A p.(Leu120Leu) Not described* Silent mutation 2688 48.0
KRAS 4 c.353G > A p.(Cys118Tyr) Not described* Missense 2688 14.4
KRAS 4 c.418C > T p.(Pro140Ser) COSM4169136 Missense 2688 6.0
#8 Right colon Primary Adenocarcinoma KRAS 4 c.344G > A p.(Gly115Glu) Not described* Missense 1634 4.3
NRAS 2 c.69A > G p.(Leu23Leu) rs771113899 # Silent mutation 1819 1.8
#9 Sigmoid colon Primary Lieberkuhnian adenocarcinoma KRAS 3 c.281G > A p.(Arg68Arg) Not described* Silent mutation 1849 25.0
KRAS 4 c.394G > A p.(Asp132Asn) Not described* Missense 1836 4.0
NRAS 2 c.64C > T p.(Gln22)* Not described* Stop mutation 2913 8.0
#10 NA Metastasis (liver) Adenocarcinoma NRAS 2 c.99T > G p.(Asp33Glu) Not describedb Missense 8161 22.5
KRAS 2 c.35G > T p.(Gly12Val) COSM520c Missense 2397 17.6
#11 Rectum Primary Adenocarcinoma BRAF 15 c.1742A > G p.(Asn581Ser) COSM462 Missense 4048 27.6
NRAS 2 c.34G > T p.(Gly12Cys) COSM562c Missense 2398 15.7
#12 Right colon Primary Lieberkuhnian adenocarcinoma KRAS 2 c.40G > A p.(Val14Ile) COSM12722 Missense 2887 14.5
BRAF 15 c.1805C > T p.(Ser602Phe) Not describedb Missense 5208 22.6
HRAS 3 c.217C > T p.(Arg73Cys) Not describedb Missense 2825 19
MET 14 c.3050A > C p.(Glu1017Ala) Not describedb Missense 11344 14.3
#13 Colon Primary Lieberkuhnian adenocarcinoma BRAF 11 c.1396G > A p.(Gly466Arg) COSM253328 Missense 5991 21.2
#14 Colon Primary Adenocarcinoma BRAF 15 c.1781A > G p.(Asp594Gly) COSM467 Missense 11967 31.5
#15 Rectum Primary Lieberkuhnian adenocarcinoma BRAF 11 c.1406G > T p.(Gly469Val) COSM469 Missense 6910 46.2
#16 Duodenum Primary Adenocarcinoma BRAF 15 c.1780G > A p.(Asp594Asn) COSM27639 Missense 8067 21
KRAS 2 c.38G > A p.(Gly13Asp) COSM532 Missense 3651 19.9
#17 Caecum Primary Lieberkuhnian adenocarcinoma BRAF 11 c.1406G > C p.(Gly469Ala) COSM460 Missense 5570 31.4
KRAS 2 c.35G > A p.(Gly12Asp) COSM521 Missense 736 50.8
#18 Rectum Primary Adenocarcinoma BRAF 11 c.1397G > A p.(Gly466Glu) COSM453 Missense 12029 7.9
KRAS 2 c.57G > T p.(Leu19Phe) COSM20818 Missense 12363 6.5
#19 Colon Primary Adenocarcinoma KRAS 2 c.38G > A p.(Gly13Asp) COSM532 Missense 2083 25.6
KRAS 4 c.436G > A p.(Ala146Thr) COSM19404 Missense 5445 25.6
KRAS 3 c.264A > C p.(Lys88Asn) Not describedb Missense 6549 28.2
#20 Rectum Primary Adenocarcinoma BRAF 11 c.1406G > C p.(Gly469Ala) COSM460 Missense 20393 31.3
KRAS 4 c.351A > T p.(Lys117Asn) COSM28519 Missense 27295 16.8
#21 Rectosigmoid Primary Adenocarcinoma BRAF 15 c.1801A > G p.(Lys601Glu) COSM478 Missense 9254 23.6
#22 Caecum Primary Adenocarcinoma BRAF 15 c.1799T > A p.(Val600Glu) COSM476 Missense 12127 32.5
KRAS 2 c.35G > T p.(Gly12Val) COSM520 Missense 9389 49.6

aAs described in the Catalogue of Somatic Mutations in Cancer (COSMIC), available online at.

bNot described as somatic nor as single nucleotide polymorphism (SNP) in databases.

cKRAS and NRAS hotspot mutation.

dMutant allele fraction (MAF).