Table 1.

FBXW7 mutations in primary human tumors

Tumor typeCurrent study, frequency (%)Previous studies, frequency (%)Nucleotide change *Amino acid change
Breast1/122 (1)A791GQ264R
Bladder0/20 (0)
Cholangiocarcinoma7/20 (35)C1393T (×4)R465C
G1394AR465H
C1513TR505C
A1556GY519C
Colon 3/31 (10)C1393T (×2)R465C
G1510AV504I
45 /492 (9)C658TQ220X
C670T (×3)R224X
C832T (×4)R278X
C845AS282X
C907TQ303X
A936CR312S
C1099TR367X
C1177T (×3)R393X
G1190AG397D
G1268TG423V
C1313TS438F
G1338AW446X
C1393T (×7)R465C
G1394A (×2)R465H
G1436A (×7)R479Q
G1457AW486X
C1513TR505C
G1514CR505P
G1628AR543K
A1634GY545C
C1745T (×4)S582L
C1787TS596F
Endometrium §9/102 (9)β-G67FV23I
G370TD124Y
C1099TR367X
2bp ins. 1110376X
G1394AR465H
1bp ins. 1417476X
G1436A (×2)R479Q
C1972TR658X
Esophagus 0/27 (0)
Leukemia AML, 0/35 (0)
B-ALL, 0/20 (0)
B-CLL, 0/20 (0)
HCL, 0/20 (0)
T-ALL **, 8/26 (31)G1394A (×4)R465H
C1435G(×2)R479G
G1436TR479L
C2065TR689W
Liver0/12 (0)
Lung ††NSCLC, 1/38 (3)0/50 (0)A32GK11R
Melanoma0/20 (0)
Bone ‡‡1/47 (2)3bp del., 424
Ovarian §§0/32 (0)2/111 (2)G734TS245I
G1411TE471X
Prostate1/83 (1)3bp ins., 45+CCT, +P
Pancreas ∥∥1/11 (9)A1379GH460R
Stomach ¶¶8 ***, †††/52 (15)C1393T (×4)R465C
G943AA315T
G1436TR479L
G1451CR484T
G1510AV504I
6/162 (4)G1318AD440N
C1393TR465C
G1947AW649X
1bp del, 1996706X
G2021AR674Q
G2077AE693K
  • Abbreviations: B-CLL, B-cell chronic lymphocytic leukemia; B-ALL, B-cell acute lymphocytic leukemia; T-ALL, T-cell acute lymphocytic leukemia; HCL, hairy cell leukemia; NSCLC, non–small-cell lung carcinoma.

  • * Nucleotide and codon position based on α-isoform transcript unless indicated.

  • Includes tumors analyzed in refs 5, 9.

  • Includes three tumors with multiple FBXW7 mutations.

  • § Refs. 6, 10.

  • Ref. 11.

  • Ref. 12.

  • ** Malyukova et al., submitted for publication.

  • †† Ref. 13.

  • ‡‡ Ref. 14.

  • §§ Ref. 15.

  • ∥∥ Ref. 16.

  • ¶¶ Ref. 17.

  • *** All mutations were confirmed as somatic.

  • ††† Restriction digest-based analysis showed five tumors with mutations had no LOH of the remaining FBXW7/hCDC4 allele.